Prof. Dr. ID: 71389
Rene Santer
Publications
- 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Mütze, U., Ottenberger, A., Gleich, F., Maier, E. M., Lindner, M., Husain, R. A., Palm, K., Beblo, S., Freisinger, P., Santer, R., Thimm, E., Vom Dahl, S., Weinhold, N., Grohmann-Held, K., Haase, C., Hennermann, J. B., Hörbe-Blindt, A., Kamrath, C., Marquardt, I., Marquardt, T., Behne, R., Haas, D., Spiekerkoetter, U., Hoffmann, G. F., Garbade, S. F., Grünert, S. C. & Kölker, S., 04.2024, In: ANN CLIN TRANSL NEUR. 11, 4, p. 883-898 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2023
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze, U., Henze, L., Schröter, J., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 11.2023, In: J INHERIT METAB DIS. 46, 6, p. 1063-1077 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmannd, S., 06.2023, In: GENET MED. 25, 6, p. 100828Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel, G. F., Mozer-Glassberg, Y., Landau, Y. E., Schlieben, L. D., Prokisch, H., Feichtinger, R. G., Mayr, J. A., Brennenstuhl, H., Schröter, J., Pechlaner, A., Alkuraya, F. S., Baker, J. J., Barcia, G., Baric, I., Braverman, N., Burnyte, B., Christodoulou, J., Ciara, E., Coman, D., Das, A. M., Darin, N., Della Marina, A., Distelmaier, F., Eklund, E. A., Ersoy, M., Fang, W., Gaignard, P., Ganetzky, R. D., Gonzales, E., Howard, C., Hughes, J., Konstantopoulou, V., Kose, M., Kerr, M., Khan, A., Lenz, D., McFarland, R., Margolis, M. G., Morrison, K., Müller, T., Murayama, K., Nicastro, E., Pennisi, A., Peters, H., Piekutowska-Abramczuk, D., Rötig, A., Santer, R., Scaglia, F., Schiff, M., Shagrani, M., Sharrard, M., Soler-Alfonso, C., Staufner, C., Storey, I., Stormon, M., Taylor, R. W., Thorburn, D. R., Teles, E. L., Wang, J-S., Weghuber, D. & Wortmann, S., 06.2023, In: GENET MED. 25, 6, p. 100314Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko, S., Peschka, M., Tsiakas, K., Schulz-Jürgensen, S., Herden, U. & Santer, R., 06.2023, In: MOL GENET METAB REP. 35, p. 100977Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems
Murko, S., Gramer, G. & Santer, R., 04.2023, In: Kinder- und Jugendarzt. 54, 4, p. 234-246Research output: SCORING: Contribution to journal › Training articles › Education › peer-review
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira, L., Dallabona, C., Swanson, M. A., Farris, J., Østergaard, E., Tsiakas, K., Hempel, M., Aquaviva-Bourdain, C., Koutsoukos, S., Stence, N. V., Magistrati, M., Spector, E. B., Kronquist, K., Christensen, M., Karstensen, H. G., Feichtinger, R. G., Achleitner, M. T., Lawrence Merritt, J., Pérez, B., Ugarte, M., Grünewald, S., Riela, A. R., Julve, N., Arnoux, J-B., Haldar, K., Donnini, C., Santer, R., Lund, A. M., Mayr, J. A., Rodriguez-Pombo, P. & Van Hove, J. L. K., 06.03.2023, In: HUM MOL GENET. 32, 6, p. 917-933 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Mütze, U., Gleich, F., Barić, I., Baumgartner, M., Burlina, A., Chapman, K. A., Chien, Y-H., Cortès-Saladelafont, E., De Laet, C., Dobbelaere, D., Eysken, F., Gautschi, M., Santer, R., Häberle, J., Joaquín, C., Karall, D., Lindner, M., Lund, A. M., Mühlhausen, C., Murphy, E., Roland, D., Ruiz Gomez, A., Skouma, A., Grünert, S. C., Wagenmakers, M., Garbade, S. F., Kölker, S. & Boy, N., 03.2023, In: J INHERIT METAB DIS. 46, 2, p. 220-231 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
Murko, S., Aseman, A. D., Reinhardt, F., Gramer, G., Okun, J. G., Mütze, U. & Santer, R., 01.2023, In: JIMD reports. 64, 1, p. 114-120 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park, J. H., Nordström, U., Tsiakas, K., Keskin, I., Elpers, C., Mannil, M., Heller, R., Nolan, M., Alburaiky, S., Zetterström, P., Hempel, M., Schara-Schmidt, U., Biskup, S., Steinacker, P., Otto, M., Weishaupt, J., Hahn, A., Santer, R., Marquardt, T., Marklund, S. L. & Andersen, P. M., 2023, In: BRAIN COMMUN. 5, 1, p. fcad017Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2022
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Kožich, V., Schwahn, B. C., Sokolová, J., Křížková, M., Ditroi, T., Krijt, J., Khalil, Y., Křížek, T., Vaculíková-Fantlová, T., Stibůrková, B., Mills, P., Clayton, P., Barvíková, K., Blessing, H., Sykut-Cegielska, J., Dionisi-Vici, C., Gasperini, S., García-Cazorla, Á., Haack, T. B., Honzík, T., Ješina, P., Kuster, A., Laugwitz, L., Martinelli, D., Porta, F., Santer, R., Schwarz, G. & Nagy, P., 12.2022, In: REDOX BIOL. 58, p. 102517Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Grohmann-Held, K., Burgard, P., Baerwald, C. G. O., Beblo, S., Vom Dahl, S., Das, A., Dokoupil, K., Fleissner, S., Freisinger, P., Heddrich-Ellerbrok, M., Jung, A., Korpel, V., Krämer, J., Lier, D., Maier, E. M., Meyer, U., Mühlhausen, C., Newger, M., Och, U., Plöckinger, U., Rosenbaum-Fabian, S., Rutsch, F., Santer, R., Schick, P., Schwarz, M., Spiekerkötter, U., Strittmatter, U., Thiele, A. G., Ziagaki, A., Mütze, U., Gleich, F., Garbade, S. F. & Kölker, S., 11.2022, In: J INHERIT METAB DIS. 45, 6, p. 1070-1081 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Scharre, S., Posset, R., Garbade, S. F., Gleich, F., Seidl, M. J., Druck, A-C., Okun, J. G., Gropman, A. L., Nagamani, S. C. S., Hoffmann, G. F., Kölker, S., Zielonka, M., Urea Cycle Disorders Consortium (UCDC) & E-IMD consortium, 11.2022, In: ANN CLIN TRANSL NEUR. 9, 11, p. 1715-1726 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli, B. K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A. L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F. M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J. A., Prokisch, H. & Wortmann, S. B., 31.08.2022, In: NUTRIENTS. 14, 17, 3605.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert, S. C., Derks, T. G. J., Adrian, K., Al-Thihli, K., Ballhausen, D., Bidiuk, J., Bordugo, A., Boyer, M., Bratkovic, D., Brunner-Krainz, M., Burlina, A., Chakrapani, A., Corpeleijn, W., Cozens, A., Dawson, C., Dhamko, H., Milosevic, M. D., Eiroa, H., Finezilber, Y., Moura de Souza, C. F., Garcia-Jiménez, M. C., Gasperini, S., Haas, D., Häberle, J., Halligan, R., Fung, L. H., Hörbe-Blindt, A., Horka, L. M., Huemer, M., Uçar, S. K., Kecman, B., Kilavuz, S., Kriván, G., Lindner, M., Lüsebrink, N., Makrilakis, K., Mei-Kwun Kwok, A., Maier, E. M., Maiorana, A., McCandless, S. E., Mitchell, J. J., Mizumoto, H., Mundy, H., Ochoa, C., Pierce, K., Fraile, P. Q., Regier, D., Rossi, A., Santer, R., Schuman, H. C., Sobieraj, P., Spenger, J., Spiegel, R., Stepien, K. M., Tal, G., Tanšek, M. Z., Torkar, A. D., Tchan, M., Thyagu, S., Schrier Vergano, S. A., Vucko, E., Weinhold, N., Zsidegh, P. & Wortmann, S. B., 08.2022, In: GENET MED. 24, 8, p. 1781-1788 8 p.Research output: SCORING: Contribution to journal › Short publication › Research › peer-review
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Kuseyri Hübschmann, O., Juliá-Palacios, N. A., Olivella, M., Guder, P., Zafeiriou, D. I., Horvath, G., Kulhánek, J., Pearson, T. S., Kuster, A., Cortès-Saladelafont, E., Ibáñez, S., García-Jiménez, M. C., Honzík, T., Santer, R., Jeltsch, K., Garbade, S. F., Hoffmann, G. F., Opladen, T. & García-Cazorla, Á., 08.2022, In: ANN NEUROL. 92, 2, p. 292-303 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., 05.2022, In: EUR J HUM GENET. 30, 5, p. 611-618 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive
Marten, L. M., Wanes, D., Stellbrinck, T., Santer, R. & Naim, H. Y., 01.04.2022, In: BBA-MOL BASIS DIS. 1868, 4, p. 166338Research output: SCORING: Contribution to journal › Letter › Research › peer-review
Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review
- 2021
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes
Langer, S., Waterstradt, R., Hillebrand, G., Santer, R. & Baltrusch, S., 12.2021, In: DIABETOLOGIA. 64, 12, p. 2687-2700 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Grünert, S. C., Schumann, A., Baronio, F., Tsiakas, K., Murko, S., Spiekerkoetter, U. & Santer, R., 10.11.2021, In: GENES-BASEL. 12, 11, 1785.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, O., Horvath, G., Cortès-Saladelafont, E., Yıldız, Y., Mastrangelo, M., Pons, R., Friedman, J., Mercimek-Andrews, S., Wong, S-N., Pearson, T. S., Zafeiriou, D. I., Kulhánek, J., Kurian, M. A., López-Laso, E., Oppebøen, M., Kılavuz, S., Wassenberg, T., Goez, H., Scholl-Bürgi, S., Porta, F., Honzík, T., Santer, R., Burlina, A., Sivri, H. S., Leuzzi, V., Hoffmann, G. F., Jeltsch, K., Hübschmann, D., Garbade, S. F., García-Cazorla, A., Opladen, T. & iNTD Registry Study Group, 20.09.2021, In: NAT COMMUN. 12, 1, p. 5529Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
Modin, L., Ng, V., Gissen, P., Raiman, J., Pfister, E. D., Das, A., Santer, R., Faghfoury, H., Santra, S. & Baumann, U., 17.09.2021, In: CHILDREN-BASEL. 8, 9, 819.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Congenital disorders of glycosylation with defective fucosylation
Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C. & Wortmann, S. B., 08.2021, In: J INHERIT METAB DIS. 44, 6, p. 1441-1452 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann, O., Mohr, A., Friedman, J., Manti, F., Horvath, G., Cortès-Saladelafont, E., Mercimek-Andrews, S., Yildiz, Y., Pons, R., Kulhánek, J., Oppebøen, M., Koht, J. A., Podzamczer-Valls, I., Domingo-Jimenez, R., Ibáñez, S., Alcoverro-Fortuny, O., Gómez-Alemany, T., de Castro, P., Alfonsi, C., Zafeiriou, D. I., López-Laso, E., Guder, P., Santer, R., Honzík, T., Hoffmann, G. F., Garbade, S. F., Sivri, H. S., Leuzzi, V., Jeltsch, K., García-Cazorla, A., Opladen, T., Harting, I. & International Working Group on Neurotransmitter Related Disorders (iNTD), 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 1070-1082 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze, U., Henze, L., Gleich, F., Lindner, M., Grünert, S. C., Spiekerkoetter, U., Santer, R., Blessing, H., Thimm, E., Ensenauer, R., Weigel, J., Beblo, S., Arélin, M., Hennermann, J. B., Marquardt, T., Marquardt, I., Freisinger, P., Krämer, J., Dieckmann, A., Weinhold, N., Keller, M., Walter, M., Schiergens, K. A., Maier, E. M., Hoffmann, G. F., Garbade, S. F. & Kölker, S., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 857-870 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Grünert, S. C., Eckenweiler, M., Haas, D., Lindner, M., Tsiakas, K., Santer, R., Tucci, S. & Spiekerkoetter, U., 07.2021, In: J INHERIT METAB DIS. 44, 4, p. 893-902 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Märtner, E. M. C., Maier, E. M., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., Santer, R., Weinhold, N., Marquardt, I., Das, A. M., Freisinger, P., Grünert, S. C., Vossbeck, J., Steinfeld, R., Baumgartner, M. R., Beblo, S., Dieckmann, A., Näke, A., Lindner, M., Heringer-Seifert, J., Lenz, D., Hoffmann, G. F., Mühlhausen, C., Ensenauer, R., Garbade, S. F., Kölker, S. & Boy, N., 05.2021, In: J INHERIT METAB DIS. 44, 3, p. 629-638 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
Heidepriem, J., Dahlke, C., Kobbe, R., Santer, R., Koch, T., Fathi, A., Seco, B. M. S., Ly, M. L., Schmiedel, S., Schwinge, D., Serna, S., Sellrie, K., Reichardt, N. C., Seeberger, P. H., Addo, M. M., Loeffler, F. F. & ID-UKE COVID-19 study group, 06.04.2021, In: PATHOGENS. 10, 4, 438.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Dulz, S., Atiskova, Y., Engel, P., Wildner, J., Tsiakas, K. & Santer, R., 02.2021, In: OPHTHALMIC GENET. 42, 1, p. 23-27 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
Pfefferle, S., Günther, T., Kobbe, R., Czech-Sioli, M., Nörz, D., Santer, R., Oh, J., Kluge, S., Oestereich, L., Peldschus, K., Indenbirken, D., Huang, J., Grundhoff, A., Aepfelbacher, M., Knobloch, J. K., Lütgehetmann, M. & Fischer, N., 01.2021, In: CLIN MICROBIOL INFEC. 27, 1, p. 130.e5-130.e8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2020
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger, P. E., Kortüm, F., Korenke, G. C., Alawi, M., Santer, R., Woidy, M., Buhas, D., Fox, S., Juusola, J., Alfadhel, M., Webb, B. D., Coci, E. G., Abou Jamra, R., Siekmeyer, M., Biskup, S., Heller, C., Maier, E. M., Javaher-Haghighi, P., Bedeschi, M. F., Ajmone, P. F., Iascone, M., Peeters, H., Ballon, K., Jaeken, J., Rodríguez Alonso, A., Palomares-Bralo, M., Santos-Simarro, F., Meuwissen, M. E. C., Beysen, D., Kooy, R. F., Houlden, H., Murphy, D., Doosti, M., Karimiani, E. G., Mojarrad, M., Maroofian, R., Noskova, L., Kmoch, S., Honzik, T., Cope, H., Sanchez-Valle, A., Undiagnosed Diseases Network, Gelb, B. D., Kurth, I., Hempel, M. & Kutsche, K., 01.08.2020, In: BRAIN. 143, 8, p. 2437-2453 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Pennisi, A., Maranda, B., Benoist, J-F., Baudouin, V., Rigal, O., Pichard, S., Santer, R., Romana Lepri, F., Novelli, A., Ogier de Baulny, H., Dionisi-Vici, C. & Schiff, M., 05.2020, In: J INHERIT METAB DIS. 43, 3, p. 540-548 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series
Dahlke, C., Heidepriem, J., Kobbe, R., Santer, R., Koch, T., Fathi, A., Ly, M. L., Schmiedel, S., Seeberger, P. H., ID-UKE COVID-19 study group, Addo, M. M. & Loeffler, F., 17.04.2020, In: medRxiv.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Hip Morphology in Mucolipidosis Type II
Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J. A., Crushell, E., Dalgıç, B., Das, A. M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N. E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M. W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J. A., McKiernan, P., Mention, K., Moog, U., Mungan, N. O., Riedhammer, K. M., Santer, R., Palafoll, I. V., Vockley, J., Westphal, D. S., Wiedemann, A., Wortmann, S. B., Diwan, G. D., Russell, R. B., Prokisch, H., Garbade, S. F., Kölker, S., Hoffmann, G. F. & Lenz, D., 03.2020, In: GENET MED. 22, 3, p. 610-621 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2019
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J. & Lupski, J. R., 01.08.2019, In: AM J HUM GENET. 105, 2, p. 302-316 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen, P. M., Nordström, U., Tsiakas, K., Johannsen, J., Volk, A. E., Bierhals, T., Zetterström, P., Marklund, S. L., Hempel, M. & Santer, R., 01.08.2019, In: NEW ENGL J MED. 381, 5, p. 486-488 3 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs, Z., Nickel, M., Murko, S., Nieves Cobos, P., Schulz, A., Santer, R. & Kohlschütter, A., 05.2019, In: CLIN CHIM ACTA. 492, p. 69-71 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler, E. A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T. B., Strom, T. M., Kortüm, F., Meitinger, T., Muntau, A. C., Santer, R., Kubisch, C., Lessel, D., Denecke, J. & Hempel, M., 22.03.2019, In: DTSCH ARZTEBL INT. 116, 12, p. 197-204 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines, J. N., Golden-Grant, K., LaCroix, A., Muir, A. M., Cintrón, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., Helbig, I., Pendziwiat, M., Muhle, H., Helbig, K. L., Caliebe, A., Santer, R., Becker, K., Suchy, S., Douglas, G., Millan, F., Begtrup, A., Monaghan, K. G. & Mefford, H. C., 03.2019, In: GENET MED. 21, 3, p. 601-607 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2018
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms, F. L., Kloth, K., Bley, A., Denecke, J., Santer, R., Lessel, D., Hempel, M. & Kutsche, K., 04.10.2018, In: AM J HUM GENET. 103, 4, p. 579-591 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen, J., Kortüm, F., Rosenberger, G., Bokelmann, K., Schirmer, M. A., Denecke, J. & Santer, R., 08.2018, In: NEUROGENETICS. 19, 3, p. 151-156 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Holsten, T., Tsiakas, K., Kordes, U., Bison, B., Pietsch, T., Rutkowski, S., Santer, R. & Schüller, U., 03.2018, In: CHILD NERV SYST. 34, 3, p. 581-584 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., De Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J-M., Polic, B., Santer, R., Weinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 13.12.2017, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P. & Wortmann, S. B., 12.2017, In: ANN NEUROL. 82, 6, p. 1004-1015 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The first case of domino-split-liver transplantation in maple syrup urine disease
Herden, U., Li, J., Fischer, L., Brinkert, F., Blohm, M., Santer, R., Nashan, B. & Grabhorn, E., 09.2017, In: PEDIATR TRANSPLANT. 21, 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
Böhringer, J., Santer, R., Schumacher, N., Gieseke, F., Cornils, K., Pechan, M., Kustermann-Kuhn, B., Handgretinger, R., Schöls, L., Harzer, K., Krägeloh-Mann, I. & Müller, I., 31.07.2017, In: HUM MUTAT. 38, 11, p. 1511-1520Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Park, J. H., Hogrebe, M., Fobker, M., Brackmann, R., Fiedler, B., Reunert, J., Rust, S., Tsiakas, K., Santer, R., Grüneberg, M. & Marquardt, T., 27.07.2017, In: GENET MED.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
du Moulin, M., Thies, B., Blohm, M., Oh, J., Kemper, M. J., Santer, R. & Mühlhausen, C., 12.07.2017, In: JIMD reports.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel, M., Kremer, L. S., Tsiakas, K., Alhaddad, B., Haack, T. B., Löbel, U., Feichtinger, R. G., Sperl, W., Prokisch, H., Mayr, J. A. & Santer, R., 08.07.2017, In: MITOCHONDRION.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
Grünert, S. C., Schlatter, S. M., Schmitt, R. N., Gemperle-Britschgi, C., Mrázová, L., Balcı, M. C., Bischof, F., Çoker, M., Das, A. M., Demirkol, M., de Vries, M., Gökçay, G., Häberle, J., Uçar, S. K., Lotz-Havla, A. S., Lücke, T., Roland, D., Rutsch, F., Santer, R., Schlune, A., Staufner, C., Schwab, K. O., Mitchell, G. A. & Sass, J. O., 07.2017, In: MOL GENET METAB. 121, 3, p. 206-215 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2
Coady, M. J., El Tarazi, A., Santer, R., Bissonnette, P., Sasseville, L. J., Calado, J., Lussier, Y., Dumayne, C., Bichet, D. G. & Lapointe, J-Y., 01.2017, In: J AM SOC NEPHROL. 28, 1, p. 85-93Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2016
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi, V., Pena, L. D. M., Kim, K., Burton, B., Hempel, M., Schoch, K., Walkiewicz, M., McLaughlin, H. M., Cho, M., Stong, N., Hickey, S. E., Shuss, C. M., Undiagnosed Diseases Network, Freemark, M. S., Bellet, J. S., Keels, M. A., Bonner, M. J., El-Dairi, M., Butler, M., Kranz, P. G., Stumpel, C. T. R. M., Klinkenberg, S., Oberndorff, K., Alawi, M., Santer, R., Petrovski, S., Kuismin, O., Korpi-Heikkilä, S., Pietilainen, O., Aarno, P., Kurki, M. I., Hoischen, A., Need, A. C., Goldstein, D. B. & Kortüm, F., 06.10.2016, In: AM J HUM GENET. 99, 4, p. 991-999 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez, C., Rüfenacht, V., Santra, S., Lund, A. M., Santer, R., Lindner, M., Tangeraas, T., Unsinn, C., de Lonlay, P., Burlina, A., van Karnebeek, C. D. M. & Häberle, J., 10.2016, In: GENET MED. 18, 10, p. 991-1000Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
Ninković, D., Sarnavka, V., Bašnec, A., Ćuk, M., Ramadža, D. P., Fumić, K., Kušec, V., Santer, R. & Barić, I., 01.09.2016, In: J PEDIATR ENDOCR MET. 29, 9, p. 1083-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel, S., Kühl, J-S., Bley, A. E., Kehrer, C., Weschke, B., Döring, M., Böhringer, J., Schrum, J., Santer, R., Kohlschütter, A., Krägeloh-Mann, I. & Müller, I., 01.09.2016, In: JAMA NEUROL. 73, 9, p. 1133-40Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Sentner, C. P., Hoogeveen, I. J., Weinstein, D. A., Santer, R., Murphy, E., McKiernan, P. J., Steuerwald, U., Beauchamp, N. J., Taybert, J., Laforêt, P., Petit, F. M., Hubert, A., Labrune, P., Smit, G. P. A. & Derks, T. G. J., 09.2016, In: J INHERIT METAB DIS. 39, 5, p. 697-704 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenylketonuria: Direct and indirect effects of phenylalanine
Schlegel, G., Scholz, R., Ullrich, K., Santer, R. & Rune, G. M., 14.04.2016, In: EXP NEUROL. 281, p. 28-36 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. & Haack, T. B., 04.02.2016, In: AM J HUM GENET. 98, p. 358-362Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer, R., du Moulin, M., Shahinyan, T., Vater, I., Maier, E., Muntau, A. C. & Steinmann, B., 2016, In: ORPHANET J RARE DIS. 11, p. 44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
TMEM165 Deficiency: Postnatal Changes in Glycosylation
Althoff, S. S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R. & Marquardt, T., 2016, JIMD Reports. 1 ed. Springer, Vol. 26. p. 21-29 9 p. (JIMD Reports; vol. 26).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
- 2015
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park, J. H., Hogrebe, M., Grüneberg, M., DuChesne, I., von der Heiden, A. L., Reunert, J., Schlingmann, K. P., Boycott, K. M., Beaulieu, C. L., Mhanni, A. A., Innes, A. M., Hörtnagel, K., Biskup, S., Gleixner, E. M., Kurlemann, G., Fiedler, B., Omran, H., Rutsch, F., Wada, Y., Tsiakas, K., Santer, R., Nebert, D. W., Rust, S. & Marquardt, T., 03.12.2015, In: AM J HUM GENET. 97, 6, p. 894-903 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
Klünder, S., Heeren, J., Markmann, S., Santer, R., Braulke, T. & Pohl, S., 08.2015, In: J LIPID RES. 56, 8, p. 1625-32 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Fazeli, W., Kaczmarek, S., Kirschstein, M. & Santer, R., 28.07.2015, In: BMC GASTROENTEROL. 15, p. Art. 90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Wortmann, S. B., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., Smeitink, J. A. M., Morava, E., Kozicz, T., Wevers, R. A., Wolf, N. I. & Willemsen, M. A., 04.2015, In: NEUROPEDIATRICS. 46, 2, p. 98-103 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
Hermann, K., Varwig-Janßen, D., Budnik, L. T., Nordholt, G., Reinshagen, K., Oh, J., Santer, R. & Mühlhausen, C., 04.2015, In: MONATSSCHR KINDERH. 163, 6, p. 570-574Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hippocampal synaptic connectivity in phenylketonuria
Horling, K., Schlegel, G., Schulz, S., Vierk, R., Ullrich, K., Santer, R. & Rune, G., 15.02.2015, In: HUM MOL GENET. 4, 24, p. 1007-1018Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn, A., Praetorius, S., Karabul, N., Dießel, J., Schmidt, D., Motz, R., Haase, C., Baethmann, M., Hennermann, J. B., Smitka, M., Santer, R., Muschol, N., Meyer, A., Marquardt, T., Huemer, M., Thiels, C., Rohrbach, M., Seyfullah, G. & Mengel, E., 2015, In: JIMD reports. 20, p. 65-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2014
Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl, T., Tsiakas, K., Mühlhausen, C., Santer, R., C, W., Dr. von der Wense, A. & Singer, D., 12.2014, In: Z GEBURTSH NEONATOL. 218, 06, p. 269-270Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., Maiorana, A., Dionisi-Vici, C., Moeslinger, D., Brunner-Krainz, M., Lotz-Havla, A. S., Cocho de Juan, J. A., Couce Pico, M. L., Santer, R., Scholl-Bürgi, S., Mandel, H., Bliksrud, Y. T., Freisinger, P., Aldamiz-Echevarria, L. J., Hochuli, M., Gautschi, M., Endig, J., Jordan, J., McKiernan, P., Ernst, S., Morlot, S., Vogel, A., Sander, J. & Das, A. M., 01.08.2014, In: ORPHANET J RARE DIS. 9, p. 107Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
Cobos, P. N., Steglich, C., Santer, R., Lukacs, Z. & Gal, A., 06.05.2014, In: JIMD reports.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals
Barvencik, F., Kurth, I., Koehne, T., Stauber, T., Zustin, J., Tsiakas, K., Ludwig, C. F., Beil, F. T., Pestka, J-M., Hahn, M., Santer, R., Supanchart, C., Kornak, U., Del Fattore, A., Jentsch, T. J., Teti, A., Schulz, A., Schinke, T. & Amling, M., 01.04.2014, In: J BONE MINER RES. 29, 4, p. 982-91 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Mühlhausen, C., Salomons, G. S., Lukacs, Z., Struys, E. A., van der Knaap, M. S., Ullrich, K. & Santer, R., 01.04.2014, In: J INHERIT METAB DIS. 37, 5, p. 775-781Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
Grabhorn, E., Tsiakas, K., Herden, U., Fischer, L., Freisinger, P., Marquardt, T., Ganschow, R., Briem-Richter, A. & Santer, R., 01.04.2014, In: LIVER TRANSPLANT. 20, 4, p. 464-72 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
Albers, K., Schlein, C., Wenner, K., Lohse, P., Bartelt, A., Heeren, J., Santer, R. & Merkel, M., 01.03.2014, In: ATHEROSCLEROSIS. 233, 1, p. 97-103 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
Fortugno, P., Josselin, E., Tsiakas, K., Agolini, E., Cestra, G., Teson, M., Santer, R., Castiglia, D., Novelli, G., Dallapiccola, B., Kurth, I., Lopez, M., Zambruno, G. & Brancati, F., 27.02.2014, In: J INVEST DERMATOL. 134, 8, p. 2146-2153Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Rüegger, C. M., Lindner, M., Ballhausen, D., Baumgartner, M. R., Beblo, S., Das, A., Gautschi, M., Glahn, E. M., Grünert, S. C., Hennermann, J., Hochuli, M., Huemer, M., Karall, D., Kölker, S., Lachmann, R. H., Lotz-Havla, A., Möslinger, D., Nuoffer, J-M., Plecko, B., Rutsch, F., Santer, R., Spiekerkoetter, U., Staufner, C., Stricker, T., Wijburg, F. A., Williams, M., Burgard, P. & Häberle, J., 01.01.2014, In: J INHERIT METAB DIS. 37, 1, p. 21-30 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2013
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
Kollmann, K., Pestka, J-M., Kühn, S. C., Schöne, E., Schweizer, M., Karkmann, K., Otomo, T., Catala-Lehnen, P., Failla, A. V., Marshall, R. P., Krause, M., Santer, R., Amling, M., Braulke, T. & Schinke, T., 01.12.2013, In: EMBO MOL MED. 5, 12, p. 1871-86 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency
Afroze, B., Yunus, Z., Steinmann, B. & Santer, R., 01.09.2013, In: EUR J PEDIATR. 172, 9, p. 1249-53 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A., Nuoffer, J-M., Parini, R., Read, M-H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. & Salomons, G. S., 04.04.2013, In: AM J HUM GENET. 92, 4, p. 627-31 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H-G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2012
Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood
Gramer, G., Wolf, N. I., Vater, D., Bast, T., Santer, R., Kamsteeg, E-J., Wevers, R. A. & Ebinger, F., 01.06.2012, In: NEUROPEDIATRICS. 43, 3, p. 168-171 4 p., 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Grünert, S. C., Schwab, K. O., Pohl, M., Sass, J. O. & Santer, R., 01.03.2012, In: MOL GENET METAB. 105, 3, p. 433-437 5 p., 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Suggested guidelines for the diagnosis and management of urea cycle disorders
Häberle, J., Boddaert, N., Burlina, A., Chakrapani, A., Dixon, M., Huemer, M., Karall, D., Martinelli, D., Crespo, P. S., Santer, R., Servais, A., Valayannopoulos, V., Lindner, M., Rubio, V. & Dionisi-Vici, C., 01.01.2012, In: ORPHANET J RARE DIS. 7, p. 32Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W. & Baumgartner, M. R., 2012, In: ORPHANET J RARE DIS. 7, p. 31Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A child with night blindness: preventing serious symptoms of Refsum disease.
Kohlschütter, A., Santer, R., Lukacs, Z., Altenburg, C., Kemper, M. J. & Rüther, K., 2012, In: J CHILD NEUROL. 27, 5, p. 654-656 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glyceroluria and neonatal hemochromatosis.
Barić, I., Zibar, K., Ćorić, M., Santer, R., Bonilla, S., Bilić, K., Buljević, A. D., Benjak, V., Fumić, K. & Whitington, P. F., 2012, In: J PEDIATR GASTR NUTR. 55, 4, p. 126-128 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutation analysis in 54 propionic acidemia patients.
Kraus, J. P., Spector, E., Venezia, S., Estes, P., Chiang, P. W., Creadon-Swindell, G., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Ugarte, M., Sperl, W., Superti-Furga, A., Schwab, K. O., Grünert, S. C. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 51-63 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Propionic acidemia: neonatal versus selective metabolic screening.
Grünert, S. C., Müllerleile, S., de Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H. G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 2012, In: J INHERIT METAB DIS. 35, 1, p. 41-49 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2011
Effect of kidney disease on glucose handling (including genetic defects)
Calado, J., Santer, R. & Rueff, J., 03.2011, In: Kidney international. Supplement. 120, p. S7-13Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.
Lukacs, Z., Nieves Cobos, P. A., Keil, A., Hartung, R., Mengel, E., Beck, M., Deschauer, M., Hanisch, F. & Santer, R., 2011, In: CLIN BIOCHEM. 44, 7, p. 476 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fanconi-Bickel syndrome and fertility.
von Schnakenburg, C. & Santer, R., 2011, In: AM J MED GENET A. 155A, 10, p. 2607 10.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.
Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung
Kuhnigk, O., Weidtmann, K., Anders, S., Hüneke, B., Santer, R. & Harendza, S., 2011, In: GMS Z Med Ausbild. 28, 1, p. 15 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
Kędzierska, K., Kwiatkowski, S., Torbé, A., Marchelek-Myśliwiec, M., Marcinkiewicz, O., Bobrek-Lesiakowska, K., Gołembiewska, E., Kwiatkowska, E., Rzepka, R., Ciechanowski, K., Czajka, R. & Santer, R., 2011, In: AM J MED GENET A. 155A, 8, p. 2028-2030 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2010
Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
Santer, R. & Calado, J., 2010, In: CLIN J AM SOC NEPHRO. 5, 1, p. 133-141 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-760 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.
Kordes, U., Briem-Richter, A., Santer, R., Schäfer, H., Singer, D., Sonntag, J., Steuerwald, U., Schneppenheim, R. & Janka-Schaub, G., 2010, In: PEDIATR BLOOD CANCER. 54, 5, p. 758-766 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Spiekerkoetter, U., Haussmann, U., Mueller, M., Frank, T. V., Stehn, M., Santer, R. & Lukacs, Z., 2010, In: J PEDIATR-US. 157, 4, p. 668-673 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2009
Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.
Buchert, R., Santer, R., Brenner, W., Apostolova, I., Mester, J., Clausen, M. & Silverman, D. H. S., 2009, In: NUKLEARMED-NUCL MED. 48, 1, p. 44-54 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs, Z., Paulina, N. C., Mengel, E., Hartung, R., Beck, M., Deschauer, M., Keil, A. & Santer, R., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children
Morava, E., Steuerwald, U., Carrozzo, R., Kluijtmans, LA., Joensen, F., Santer, R., Dionisi-Vici, C. & Wevers, RA., 2009, In: MITOCHONDRION. 9, 6, p. 438-442 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
Kohlschütter, B., Ellerbrok, M., Merkel, M., Tchirikov, M., Zschocke, J., Santer, R. & Ullrich, K., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter, U., Lindner, M., Santer, R., Grotzke, M., Baumgartner, M., Boehles, H., Das, A., Haase, C., Hennermann, J., Karall, D., de Klerk, H., Knerr, I., Koch, H., Plecko, B., Röschinger, W., Schwab, K., Scheible, D., Wijburg, F., Zschocke, J., Mayatepek, E. & Wendel, U., 2009, In: J INHERIT METAB DIS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2008
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel, K., Nuoffer, J-M., Mühlhausen, C., Klaus, V., Largiadèr, C. R., Tsiakas, K. K., Santer, R., Wermuth, B. & Häberle, J., 2008, In: MOL GENET METAB. 94, 3, p. 292-297 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola, A., Santer, R., Akman, O. H., Tsiakas, K. K., Schaefer, H., Ding, X., Karadimas, C. L., Shanske, S., Ganesh, J., Salvatore, D. M. & Zeviani, M., 2008, In: ARCH NEUROL-CHICAGO. 65, 8, p. 1108-1113 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Schumacher, U., Lukacs, Z., Kaltschmidt, C., Freudlsperger, C., Schulz, D., Kompisch, K., Müller, R., Rudolph, T. K., Santer, R., Lorke, D. & Ullrich, K., 2008, In: NEUROBIOL DIS. 32, 3, p. 385-390 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.
Martin-Subero, J. I., Bibikova, M., Mackay, D., Wickham-Garcia, E., Sellami, N., Richter, J., Santer, R., Caliebe, A., Fan, J-B., Temple, I. K. & Siebert, R., 2008, In: AM J MED GENET A. 146, 24, p. 3227-3229 24.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi, L., Zurflüh, M. R., Schuler, A., Ponzone, A., Porta, F., Fiori, L., Giovannini, M., Santer, R., Hoffmann, G. F., Ibel, H., Wendel, U., Ballhausen, D., Baumgartner, M. R. & Blau, N., 2008, In: MOL GENET METAB. 93, 3, p. 295-305 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.
Prietsch, V., Arnold, S., Kraegeloh-Mann, I., Kuehr, J. & Santer, R., 2008, In: NEUROPEDIATRICS. 39, 1, p. 51-54 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado, J., Sznajer, Y., Metzger, D., Rita, A., Hogan, M. C., Kattamis, A., Scharf, M., Tasic, V., Greil, J., Brinkert, F., Kemper, M. J. & Santer, R., 2008, In: NEPHROL DIAL TRANSPL. 23, 12, p. 3874-3879 12.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Paesold-Burda, P., Baumgartner, M. R., Santer, R., Bosshard, N. U. & Steinmann, B., 2007, In: J INHERIT METAB DIS. 30, 6, p. 896-902 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
Hoffman, T. L., Blanco, E., Lane, A., Galvin-Parton, P., Gadi, I., Santer, R., DeLeón, D., Stanley, C. & Wilson, T. A., 2007, In: CLIN GENET. 71, 6, p. 551-557 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling, A., Mülhausen, C., Lehmann, W., Santer, R., Schinke, T., Rueger, J. M. & Amling, M., 2007, In: OSTEOPOROSIS INT. 18, 5, p. 659-669 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Sivia, D. G., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., Rizzo, C., Piemonte, F., Rodenburg, R., Santer, R., Santorelli, F. M., van Rooij, A., Diana, V. K., Morava, E. & Wevers, R. A., 2007, In: BRAIN. 130, 3, p. 862-874 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2006
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
Furlan, F., Santer, R., Vismara, E., Santus, F., Sersale, G., Menni, F. & Parini, R., 2006, In: J INHERIT METAB DIS. 29, 5, p. 685 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
Hartwig, C., Gal, A., Santer, R., Ullrich, K., Finckh, U. & Kreienkamp, H-J., 2006, In: FEBS LETT. 580, 14, p. 3489-3492 14.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Lukacs, Z. & Santer, R., 2006, In: MOL NUTR FOOD RES. 50, 4-5, p. 443-450 4-5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger, P., Fütterer, N., Lankes, E., Gempel, K., Berger, T. M., Spalinger, J., Hoerbe, A., Schwantes, C., Lindner, M., Santer, R., Burdelski, M., Schaefer, H., Setzer, B., Walker, U. A. & Horváth, R., 2006, In: ARCH NEUROL-CHICAGO. 63, 8, p. 1129-1134 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler, S. C., Polanetz, R., Maier, E. M., Heidenreich, S. C., Niederer, B., Mayerhofer, P. U., Lagler, F., Koch, H-G., Santer, R., Fletcher, J. M., Ranieri, E., Das, A. M., Spiekerkötter, U., Schwab, K. O., Pötzsch, S., Marquardt, I., Hennermann, J. B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A. C., Roscher, A. A. & Röschinger, W., 2006, In: HUM MUTAT. 27, 8, p. 748-759 8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath, R., Hudson, G., Ferrari, G., Fütterer, N., Ahola, S., Lamantea, E., Prokisch, H., Lochmüller, H., McFarland, R., Ramesh, V., Klopstock, T., Freisinger, P., Salvi, F., Mayr, J. A., Santer, R., Tesarova, M., Zeman, J., Udd, B., Taylor, R. W., Turnbull, D., Hanna, M., Fialho, D., Suomalainen, A., Zeviani, M. & Chinnery, P. F., 2006, In: BRAIN. 129, 7, p. 1674-1684 7.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2005
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.
van Diggelen, O. P., Voznyi, Y. V., Keulemans, J. L. M., Schoonderwoerd, K., Ledvinova, J., Mengel, E., Zschiesche, M., Santer, R. & Harzer, K., 2005, In: J INHERIT METAB DIS. 28, 5, p. 733-741 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen, C., Schneppenheim, R., Budde, U., Merkel, M., Muschol, N., Ullrich, K. & Santer, R., 2005, In: J INHERIT METAB DIS. 28, 6, p. 945-950 6 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
Berry, G. T., Baynes, J. W., Wells-Knecht, K. J., Szwergold, B. S. & Santer, R., 2005, In: MOL GENET METAB. 86, 4, p. 473-477 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Aretz, S., Stienen, D., Uhlhaas, S., Loff, S., Back, W., Pagenstecher, C., McLeod, D. R., Graham, G. E., Mangold, E., Santer, R., Propping, P. & Friedl, W., 2005, In: HUM MUTAT. 26, 6, p. 513-519 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Santer, R., Gokçay, G., Demirkol, M., Gal, A. & Lukacs, Z., 2005, In: J INHERIT METAB DIS. 28, 2, p. 137-140 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari, G., Lamantea, E., Donati, A., Filosto, M., Briem, E., Carrara, F., Parini, R., Simonati, A., Santer, R. & Zeviani, M., 2005, In: BRAIN. 128, 4, p. 723-731 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer, R., Rischewski, J., von Weihe, M., Niederhaus, M., Schneppenheim, S., Baerlocher, K., Kohlschütter, A., Muntau, A., Posselt, H-G., Steinmann, B. & Schneppenheim, R., 2005, In: HUM MUTAT. 25, 6, p. 594 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2004
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer, R., Vockley, J., Willard, J-M., Huey, J. C., Sass, J. O., Edland, S. D., Burton, B. K., Berry, S. A., Santer, R., Grünert, S., Koch, H-G., Marquardt, I., Rinaldo, P., Hahn, S. & Matern, D., 2004, In: AM J HUM GENET. 75, 6, p. 1136-1142 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
Gordon, M. M., Brada, N., Remacha, A., Badell, I., Elisabeth, D. R., Baiget, M., Santer, R., Quadros, E. V., Rothenberg, S. P. & Alpers, D. H., 2004, In: HUM MUTAT. 23, 1, p. 85-91 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
Peduto, A., Spada, M., Alluto, A., La Dolcetta, M., Ponzone, A. & Santer, R., 2004, In: J INHERIT METAB DIS. 27, 2, p. 279-280 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term outcome of renal glucosuria type 0: the original patient and his natural history.
Scholl-Bürgi, S., Santer, R. & Ehrich, J. H. H., 2004, In: NEPHROL DIAL TRANSPL. 19, 9, p. 2394-2396 9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nephrolithiasis in a child with glucose-galactose malabsorption.
Tasic, V., Slaveska, N., Blau, N. & Santer, R., 2004, In: PEDIATR NEPHROL. 19, 2, p. 244-246 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The boy with massive glucosuria.
Sarkissian, A., Santer, R., Steinmann, B., Amaryan, G. & Leumann, E., 2004, In: NEPHROL DIAL TRANSPL. 19, 5, p. 1319-1320 5.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
Meissner, T., Mayatepek, E., Kinner, M. & Santer, R., 2004, In: CLIN CHIM ACTA. 341, 1-2, p. 23-26 1-2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2003
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer, R., Hillebrand, G., Steinmann, B. & Schaub, J., 2003, In: GASTROENTEROLOGY. 124, 1, p. 34-39 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman, P. J., Santer, R., Ribes, A., Dougherty, F., McGill, N., Thorburn, D. R. & FitzPatrick, D. R., 2003, In: HUM MUTAT. 22, 4, p. 288-300 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer, R., Kinner, M., Lassen, C. L., Schneppenheim, R., Eggert, P., Bald, M., Brodehl, J., Daschner, M., Ehrich, J. H. H., Kemper, M. J., Salvatore, L. V., Neuhaus, T., Skovby, F., Swift, P. G. F., Schaub, J. & Klaerke, D., 2003, In: J AM SOC NEPHROL. 14, 11, p. 2873-2882 11.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.
Claviez, A., Horst, H-A., Santer, R. & Suttorp, M., 2003, In: ANN HEMATOL. 82, 4, p. 251-253 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review