Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2021

  2. Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants

    Burgmaier, K., Brinker, L., Erger, F., Beck, B., Benz, M., Bergmann, C., Boyer, O., Collard, L., Dafinger, C., Fila, M., Kowalewska, C., Lange-Sperandio, B., Massella, L., Mastrangelo, A., Mekahli, D., Miklaszewska, M., Ortiz-Bruechle, N., Patzer, L., Prikhodina, L., Ranchin, B., Ranguelov, N., Schild, R., Seeman, T., Sever, L., Sikora, P., Szczepanska, M., Teixeira, A., Thumfart, J., Uetz, B., Weber, L. T., Wühl, E., Zerres, K., ESCAPE Study Group, Dötsch, J., Schaefer, F. & Liebau, M. C., 09.2021, In: KIDNEY INT. 100, 3, p. 650-659 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    El Ghaleb, Y., Schneeberger, P. E., Fernández-Quintero, M. L., Geisler, S. M., Pelizzari, S., Polstra, A. M., van Hagen, J. M., Denecke, J., Campiglio, M., Liedl, K. R., Stevens, C. A., Person, R. E., Rentas, S., Marsh, E. D., Conlin, L. K., Tuluc, P., Kutsche, K. & Flucher, B. E., 17.08.2021, In: BRAIN. 144, 7, p. 2092-2106 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients

    Ammer, L. S., Dohrmann, T., Muschol, N. M., Lang, A., Breyer, S. R., Ozga, A-K. & Petzoldt, M., 10.08.2021, In: J CLIN MED. 10, 16, p. 3518

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Adults Born Preterm: Long-Term Health Risks of Former Very Low Birth Weight Infants

    Singer, D., Thiede, L. P. & Perez, A., 09.08.2021, In: DTSCH ARZTEBL INT. 118, 31-32, p. 521-527 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  6. A noncoding RNA modulator potentiates phenylalanine metabolism in mice

    Li, Y., Tan, Z., Zhang, Y., Zhang, Z., Hu, Q., Liang, K., Jun, Y., Ye, Y., Li, Y-C., Li, C., Liao, L., Xu, J., Xing, Z., Pan, Y., Chatterjee, S. S., Nguyen, T. K., Hsiao, H., Egranov, S. D., Putluri, N., Coarfa, C., Hawke, D. H., Gunaratne, P. H., Tsai, K-L., Han, L., Hung, M-C., Calin, G. A., Namour, F., Guéant, J-L., Muntau, A. C., Blau, N., Sutton, V. R., Schiff, M., Feillet, F., Zhang, S., Lin, C. & Yang, L., 06.08.2021, In: SCIENCE. 373, 6555, p. 662-673 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., Leuzzi, V., Sivri, H. S., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Lane, P., Alvarez, I. & Rutsch, F., 03.08.2021, In: ORPHANET J RARE DIS. 16, 1, p. 341

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. 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

  9. Impact of Propofol Bolus Administration on the Nociceptive Flexion Reflex Threshold and Bispectral Index in Children-A Case Series

    Mauritz, M. D., Uhlenberg, F., Vettorazzi, E., Ebenebe, C. U., Singer, D. & Deindl, P., 27.07.2021, In: CHILDREN-BASEL. 8, 8, p. 639

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

    Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. & Alexanderian, D., 13.07.2021, In: MOL GENET METAB. 134, 1-2, p. 175-181 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. CEDAR, an online resource for the reporting and exploration of complexome profiling data

    van Strien, J., Haupt, A., Schulte, U., Braun, H-P., Cabrera-Orefice, A., Choudhary, J. S., Evers, F., Fernandez-Vizarra, E., Guerrero-Castillo, S., Kooij, T. W. A., Páleníková, P., Pardo, M., Ugalde, C., Wittig, I., Wöhlbrand, L., Brandt, U., Arnold, S. & Huynen, M. A., 01.07.2021, In: BBA-BIOENERGETICS. 1862, 7, p. 148411

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. 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

  13. Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients

    Schwering, C., Kammler, G., Wibbeler, E., Christner, M., Knobloch, J. K-M., Nickel, M., Denecke, J., Baehr, M. & Schulz, A., 07.2021, In: J CHILD NEUROL. 36, 8, p. 635-641 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

    Giugliani, R., Muschol, N., Keenan, H. A., Dant, M. & Muenzer, J., 07.2021, In: ARCH DIS CHILD. 106, 7, p. 674-679 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Management of CLN1 Disease: International Clinical Consensus

    Augustine, E. F., Adams, H. R., de Los Reyes, E., Drago, K., Frazier, M., Guelbert, N., Laine, M., Levin, T., Mink, J. W., Nickel, M., Peifer, D., Schulz, A., Simonati, A., Topcu, M., Turunen, J. A., Williams, R., Wirrell, E. C. & King, S., 07.2021, In: PEDIATR NEUROL. 120, p. 38-51 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

    Knapp, K. M., Jenkins, D. E., Sullivan, R., Harms, F. L., von Elsner, L., Ockeloen, C. W., de Munnik, S., Bongers, E. M. H. F., Murray, J., Pachter, N., Denecke, J., Kutsche, K. & Bicknell, L. S., 07.2021, In: EUR J HUM GENET. 29, 7, p. 1110-1120 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly

    Kloth, K., Graul-Neumann, L., Hermann, K., Johannsen, J., Bierhals, T. & Kortüm, F., 07.2021, In: NEUROGENETICS. 22, 3, p. 221-224 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. 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

  19. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Cousin, M. A., Creighton, B. A., Breau, K. A., Spillmann, R. C., Torti, E., Dontu, S., Tripathi, S., Ajit, D., Edwards, R. J., Afriyie, S., Bay, J. C., Harper, K. M., Beltran, A. A., Munoz, L. J., Falcon Rodriguez, L., Stankewich, M. C., Person, R. E., Si, Y., Normand, E. A., Blevins, A., May, A. S., Bier, L., Aggarwal, V., Mancini, G. M. S., van Slegtenhorst, M. A., Cremer, K., Becker, J., Engels, H., Aretz, S., MacKenzie, J. J., Brilstra, E., van Gassen, K. L. I., van Jaarsveld, R. H., Oegema, R., Parsons, G. M., Mark, P., Helbig, I., McKeown, S. E., Stratton, R., Cogne, B., Isidor, B., Cacheiro, P., Smedley, D., Firth, H. V., Bierhals, T., Kloth, K., Weiss, D., Fairley, C., Shieh, J. T., Kritzer, A., Jayakar, P., Kurtz-Nelson, E., Bernier, R. A., Wang, T., Eichler, E. E., van de Laar, I. M. B. H., McConkie-Rosell, A., McDonald, M. T., Kemppainen, J., Lanpher, B. C., Schultz-Rogers, L. E., Gunderson, L. B., Pichurin, P. N., Yoon, G., Zech, M., Jech, R., Winkelmann, J., Beltran, A. S., Zimmermann, M. T., Temple, B., Moy, S. S., Klee, E. W., Tan, Q. K-G., Lorenzo, D. N. & Undiagnosed Diseases Network, 07.2021, In: NAT GENET. 53, 7, p. 1006-1021 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Presence of donor specific HLA class 2 antibodies (DSA class 2) is associated with development of graft fibrosis more than 10 years after liver transplantation-a retrospective single center study

    Sultani, B., Marget, M., Briem-Richter, A., Herrmann, J., Meisner, S., Grabhorn, E. F., Ozga, A-K., Weidemann, S., Herden, U., Fischer, L. & Sterneck, M., 07.2021, In: CLIN TRANSPLANT. 35, 7, e14336.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Short- and long-term results of liver transplantation according to age at transplant: a single-center experience of 351 children

    Özen, J., Beime, J., Brinkert, F., Fischer, L., Herden, U. & Grabhorn, E., 07.2021, In: TRANSPL INT. 34, 7, p. 1251-1260 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  22. T cell cytokines in the diagnostic of early-onset sepsis

    Froeschle, G. M., Bedke, T., Boettcher, M., Huber, S., Singer, D. & Ebenebe, C. U., 07.2021, In: PEDIATR RES. 90, 1, p. 191-196 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. 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

  24. Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report

    Apostolidou, S., Harbauer, T., Lasch, P., Biermann, D., Hempel, M., Lütgehetmann, M., Pfefferle, S., Herrmann, J., Rüffer, A., Reinshagen, K., Kozlik-Feldmann, R., Gieras, A., Kniep, I., Oh, J., Singer, D., Ebenebe, C. U. & Kobbe, R., 30.06.2021, In: CHILDREN-BASEL. 8, 7, 564.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Impact of donor-specific antibodies on long-term graft survival with pediatric liver transplantation

    Schotters, F. L., Beime, J., Briem-Richter, A., Binder, T., Herden, U. & Grabhorn, E. F., 27.06.2021, In: WORLD J HEPATOL. 13, 6, p. 673-685 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K. M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G. M. S., Cappuccio, G., Brunetti-Pierri, N., Kortüm, F., Hempel, M., Denecke, J., Lehman, A., CAUSES Study, Kleefstra, T., Stuurman, K. E., Wilke, M., Thompson, M. L., Bebin, E. M., Bijlsma, E. K., Hoffer, M. J. V., Peeters-Scholte, C., Slavotinek, A., Weiss, W. A., Yip, T., Hodoglugil, U., Whittle, A., diMonda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernández-Jaen, A., Pelayo, J. P., Klöckner, C., Kamphausen, S. B., Abou Jamra, R., Arelin, M., Innes, A. M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., de Burca, A., Kini, U., Delatycki, M. B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B. J., Robertson, S. P., Lyonnet, S., Amiel, J. & Gordon, C. T., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1138-1150 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

    Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Goodman, S. J., Siu, M. T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Deden, A. C., Leenders, E., Kwint, M., Stumpel, C. T. R. M., Stevens, S. J. C., Vermeulen, J. R., van Harssel, J. V. T., Bosch, D. G. M., van Gassen, K. L. I., van Binsbergen, E., de Geus, C. M., Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I. M., Yang, H., Zou, F., Millan, F., Person, R., Xie, Y., Liu, S., Ousager, L. B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Schmidt, B., Wilson, W. G., Õunap, K., Reinson, K., Pajusalu, S., van Haeringen, A., Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Míguez, M., Ritter, A., Bhoj, E., Tønne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M. J. M., Cohn, R. D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S. W., Brunner, H. G., Vissers, L. E. L. M., Kleefstra, T., Koolen, D. A. & Weksberg, R., 03.06.2021, In: AM J HUM GENET. 108, 6, p. 1053-1068 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

    Bassanese, G., Wlodkowski, T., Servais, A., Heidet, L., Roccatello, D., Emma, F., Levtchenko, E., Ariceta, G., Bacchetta, J., Capasso, G., Jankauskiene, A., Miglinas, M., Ferraro, P. M., Montini, G., Oh, J., Decramer, S., Levart, T. K., Wetzels, J., Cornelissen, E., Devuyst, O., Zurowska, A., Pape, L., Buescher, A., Haffner, D., Marcun Varda, N., Ghiggeri, G. M., Remuzzi, G., Konrad, M., Longo, G., Bockenhauer, D., Awan, A., Andersone, I., Groothoff, J. W. & Schaefer, F., 02.06.2021, In: ORPHANET J RARE DIS. 16, 1, p. 251

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Den Mangel überleben: Natürliche Anpassungen bei Neugeborenen

    Singer, D., 06.2021, In: Z GEBURTSH NEONATOL. 225, 3, p. 203-215 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  30. Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data

    Trefz, F., Muntau, A. C., Schneider, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Zeiss, C. & Rutsch, F., 06.2021, In: MOL GENET METAB REP. 27, p. 100764

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

    Johannsen, J., Weiss, D., Schlenker, F., Groth, M. & Denecke, J., 06.2021, In: NEUROPEDIATRICS. 52, 3, p. 179-185 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

    Gonzalez Melo, M., Remacle, N., Cudré-Cung, H-P., Roux, C., Poms, M., Cudalbu, C., Barroso, M., Gersting, S. W., Feichtinger, R. G., Mayr, J. A., Costanzo, M., Caterino, M., Ruoppolo, M., Rüfenacht, V., Häberle, J., Braissant, O. & Ballhausen, D., 06.2021, In: MOL GENET METAB. 133, 2, p. 157-181 25 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. UDP-GlcNAc-1-phosphotransferase is a clinically important regulator of human and mouse hair pigmentation

    Tiede, S., Hundt, J. & Paus, R., 06.2021, In: J INVEST DERMATOL.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. HEV-Associated Neuralgic Amyotrophy : A Multicentric Case Series

    Bannasch, J. H., Berger, B., Schwartkopp, C-P., Berning, M., Goetze, O., Panning, M., Fritz-Weltin, M., Trendelenburg, G., Gelderblom, M., Lütgehetmann, M., Stute, F., Horvatits, T., Dirks, M., Antoni, C., Behrendt, P. & Pischke, S., 30.05.2021, In: PATHOGENS. 10, 6, 672.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

    Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, Ø. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H-J. & Lessel, D., 21.05.2021, In: GENOME MED. 13, 1, p. 90

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    Bley, A., Denecke, J., Kohlschütter, A., Schön, G., Hischke, S., Guder, P., Bierhals, T., Lau, H., Hempel, M. & Eichler, F. S., 19.05.2021, In: ORPHANET J RARE DIS. 16, 1, p. 227

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Investigating health-related quality of life in rare diseases:a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2)

    Gissen, P., Specchio, N., Olaye, A., Jain, M., Butt, T., Ghosh, W., Ruban-Fell, B., Griffiths, A., Camp, C., Sisic, Z., Schwering, C., Wibbeler, E., Trivisano, M., Lee, L., Nickel, M., Mortensen, A. & Schulz, A., 12.05.2021, In: ORPHANET J RARE DIS. 16, 1, 217.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Neuronal metabotropic glutamate receptor 8 protects against neurodegeneration in CNS inflammation

    Woo, M. S., Ufer, F., Rothammer, N., Di Liberto, G., Binkle, L., Haferkamp, U., Sonner, J. K., Engler, J. B., Hornig, S., Bauer, S., Wagner, I., Egervari, K., Raber, J., Duvoisin, R. M., Pless, O., Merkler, D. & Friese, M. A., 03.05.2021, In: J EXP MED. 218, 5, e20201290.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y

    Cossel, K. V., Muschol, N., Friedrich, R. E., Glatzel, M., Ammer, L., Lohmöller, B., Bendszus, M., Mautner, V-F. & Godel, T., 05.2021, In: MUSCLE NERVE. 63, 5, p. 745-750 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease:A Retrospective Case Series

    Wibbeler, E., Wang, R., Reyes, E. D. L., Specchio, N., Gissen, P., Guelbert, N., Nickel, M., Schwering, C., Lehwald, L., Trivisano, M., Lee, L., Amato, G., Cohen-Pfeffer, J., Shediac, R., Leal-Pardinas, F. & Schulz, A., 05.2021, In: J CHILD NEUROL. 36, 6, p. 468-474 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Clinical practice recommendations for recurrence of focal and segmental glomerulosclerosis/steroid-resistant nephrotic syndrome

    Weber, L. T., Tönshoff, B., Grenda, R., Bouts, A., Topaloglu, R., Gülhan, B., Printza, N., Awan, A., Battelino, N., Ehren, R., Hoyer, P. F., Novljan, G., Marks, S. D., Oh, J., Prytula, A., Seeman, T., Sweeney, C., Dello Strologo, L. & Pape, L., 05.2021, In: PEDIATR TRANSPLANT. 25, 3, p. e13955

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. 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

  43. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

    Mole, S. E., Schulz, A., Badoe, E., Berkovic, S. F., de Los Reyes, E. C., Dulz, S., Gissen, P., Guelbert, N., Lourenco, C. M., Mason, H. L., Mink, J. W., Murphy, N., Nickel, M., Olaya, J. E., Scarpa, M., Scheffer, I. E., Simonati, A., Specchio, N., Von Löbbecke, I., Wang, R. Y. & Williams, R. E., 21.04.2021, In: ORPHANET J RARE DIS. 16, 1, 185.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. 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

  45. Medizinischer Kinderschutz während des Corona-Lockdowns: Vergleichende Befunde der Kinderschutzfälle aus Kliniken und Ambulanzen in Deutschland

    Heimann, T., Ewert, J. N., Metzner, F., Sigmund, F., Jud, A. & Pawils, S., 02.04.2021, In: MONATSSCHR KINDERH. 169, 4, p. 346-352 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Current understandings in treating children with steroid-resistant nephrotic syndrome

    Lee, J. M., Kronbichler, A., Shin, J. I. & Oh, J., 04.2021, In: PEDIATR NEPHROL. 36, 4, p. 747-761 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  47. Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

    Evers, R. A. F., van Wegberg, A. M. J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S. C. J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A. & van Spronsen, F. J., 04.2021, In: MOL GENET METAB. 132, 4, p. 215-219 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

    Li, D., Strong, A., Shen, K. M., Cassiman, D., Van Dyck, M., Linhares, N. D., Valadares, E. R., Wang, T., Pena, S. D. J., Jaeken, J., Vergano, S., Zackai, E., Hing, A., Chow, P., Ganguly, A., Scholz, T., Bierhals, T., Deindl, P., Hakonarson, H. & Bhoj, E., 04.2021, In: GENET MED. 23, 4, p. 637-644 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Human epithelial stem cell survival within their niche requires "tonic" cannabinoid receptor 1-signalling-Lessons from the hair follicle

    Sugawara, K., Zákány, N., Tiede, S., Purba, T., Harries, M., Tsuruta, D., Bíró, T. & Paus, R., 04.2021, In: EXP DERMATOL. 30, 4, p. 479-493 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Outcome of liver transplantation and prevalence of liver fibrosis in Crigler-Najjar syndrome

    Schröder, H., Junge, N., Herden, U., Deutschmann, A., Weidemann, S. A., Krebs-Schmitt, D. & Grabhorn, E. F., 04.2021, In: CLIN TRANSPLANT. 35, 4, e14219.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Hip pathologies in mucopolysaccharidosis type III

    Breyer, S. R., Vettorazzi, E., Schmitz, L., Gulati, A., von Cossel, K. M., Spiro, A., Rupprecht, M., Stuecker, R. & Muschol, N. M., 19.03.2021, In: J ORTHOP SURG RES. 16, 1, 201.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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