Department of Pediatrics
Publications
- 2019
Selbstschutzmechanismen des Neugeborenen vor Mangelversorgung
Singer, D., 2019, In: Neonatologie Scan. 8, p. 205-220Research output: SCORING: Contribution to journal › SCORING: Review article › Education
Sexualfunktionen, Schwangerschaft und Geburt
Kämmerer, U., Garnier, Y. & Singer, D., 2019, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 9 ed. Stuttgart: Georg Thieme Verlag KG, p. 639-674 36 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Target body temperature in very low birth weight infants: clinical consensus in place of scientific evidence
Perez, A., van der Meer, F. & Singer, D., 2019, In: FRONT PEDIATR. 7, p. 227Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The German National Registry of Primary Immunodeficiencies (2012-2017)
El-Helou, S. M., Biegner, A-K., Bode, S., Ehl, S. R., Heeg, M., Maccari, M. E., Ritterbusch, H., Speckmann, C., Rusch, S., Scheible, R., Warnatz, K., Atschekzei, F., Beider, R., Ernst, D., Gerschmann, S., Jablonka, A., Mielke, G., Schmidt, R. E., Schürmann, G., Sogkas, G., Baumann, U. H., Klemann, C., Viemann, D., von Bernuth, H., Krüger, R., Hanitsch, L. G., Scheibenbogen, C. M., Wittke, K., Albert, M. H., Eichinger, A., Hauck, F., Klein, C., Rack-Hoch, A., Sollinger, F. M., Avila, A., Borte, M., Borte, S., Fasshauer, M., Hauenherm, A., Kellner, N., Müller, A. H., Ülzen, A., Bader, P., Bakhtiar, S., Lee, J-Y., Heß, U., Schubert, R., Wölke, S., Zielen, S., Ghosh, S., Laws, H-J., Neubert, J., Oommen, P. T., Hönig, M., Schulz, A., Steinmann, S., Schwarz, K., Dückers, G., Lamers, B., Langemeyer, V., Niehues, T., Shai, S., Graf, D., Müglich, C., Schmalzing, M. T., Schwaneck, E. C., Tony, H-P., Dirks, J., Haase, G., Liese, J. G., Morbach, H., Foell, D., Hellige, A., Wittkowski, H., Masjosthusmann, K., Geberzahn, L., Hedrich, C. M., Müller, C., Rösen-Wolff, A., Roesler, J., Zimmermann, A., Behrends, U., Rieber, N., Schauer, U., Handgretinger, R., Holzer, U., Henes, J., Kanz, L., Boesecke, C., Rockstroh, J. K., Schwarze-Zander, C., Wasmuth, J-C., Dilloo, D., Hülsmann, B., Schönberger, S., Schreiber, S., Zeuner, R., Ankermann, T., von Bismarck, P., Huppertz, H-I., Kaiser-Labusch, P., Greil, J., Jakoby, D., Kulozik, A. E., Metzler, M., Naumann-Bartsch, N., Sobik, B., Graf, N., Heine, S., Kobbe, R., Lehmberg, K., Müller, I., Herrmann, F., Horneff, G., Klein, A., Peitz, J., Schmidt, N., Bielack, S., Groß-Wieltsch, U., Classen, C. F., Klasen, J., Deutz, P., Kamitz, D., Lassay, L., Tenbrock, K., Wagner, N., Bernbeck, B., Brummel, B., Lara-Villacanas, E., Münstermann, E., Schneider, D. T., Tietsch, N., Westkemper, M., Weiß, M., Kramm, C., Kühnle, I., Kullmann, S., Girschick, H., Specker, C., Vinnemeier-Laubenthal, E., Haenicke, H., Schweigerer, L., Müller, T. G., Stiefel, M., Belohradsky, B. H., Soetedjo, V., Kindle, G. & Grimbacher, B., 2019, In: FRONT IMMUNOL. 10, p. 1272Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Wärmehaushalt und Temperaturregulation
Gekle, M. & Singer, D., 2019, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 9 ed. Stuttgart: Georg Thieme Verlag KG, p. 570-587 18 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
- 2018
JC polyomavirus replication and associated disease in pediatric renal Transplantation: an international CERTAIN Registry study
Höcker, B., Tabatabai, J., Schneble, L., Oh, J., Thiel, F., Pape, L., Rusai, K., Topaloglu, R., Kranz, B., Klaus, G., Printza, N., Yavascan, O., Fichtner, A., Krupka, K., Bruckner, T., Waldherr, R., Pawlita, M., Schnitzler, P., Hirsch, H. H. & Tönshoff, B., 12.2018, In: PEDIATR NEPHROL. 33, 12, p. 2343-2352 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
Pohl, S., Angermann, A., Jeschke, A., Hendrickx, G., Yorgan, T. A., Makrypidi-Fraune, G., Steigert, A., Kuehn, S. C., Rolvien, T., Schweizer, M., Koehne, T., Neven, M., Winter, O., Velho, R. V., Albers, J., Streichert, T., Pestka, J. M., Baldauf, C., Breyer, S., Stuecker, R., Muschol, N., Cox, T. M., Saftig, P., Paganini, C., Rossi, A., Amling, M., Braulke, T. & Schinke, T., 12.2018, In: J BONE MINER RES. 33, 12, p. 2186-2201 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The power of N-PASS, aEEG, and BIS in detecting different levels of sedation in neonates: A preliminary study
Giordano, V., Deindl, P., Goeral, K., Czaba, C., Weninger, M., Berger, A., Olischar, M. & Werther, T., 12.2018, In: PEDIATR ANESTH. 28, 12, p. 1096-1104 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Immunosuppression as effective therapy for eosinophilic cholangiopathy: A case series and review of the literature
Reher, D., Schramm, C., Brinkert, F., Weidemann, S. A., Plauth, M., Lohse, A. W. & Weiler-Normann, C., 19.11.2018, In: GastroHep. 1, 1, p. 33-44Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Lund, A. M., Borgwardt, L., Cattaneo, F., Ardigò, D., Geraci, S., Gil-Campos, M., De Meirleir, L., Laroche, C., Dolhem, P., Cole, D., Tylki-Szymanska, A., Lopez-Rodriguez, M., Guillén-Navarro, E., Dali, C. I., Héron, B., Fogh, J., Muschol, N., Phillips, D., Van den Hout, J. M. H., Jones, S. A., Amraoui, Y., Harmatz, P. & Guffon, N., 11.2018, In: J INHERIT METAB DIS. 41, 6, p. 1225-1233 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
Godel, T., Köhn, A., Muschol, N., Kronlage, M., Schwarz, D., Kollmer, J., Heiland, S., Bendszus, M., Mautner, V-F. & Bäumer, P., 11.2018, In: J NEUROL. 265, 11, p. 2723-2729 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combined inhibition of receptor tyrosine and p21-activated kinases as a therapeutic strategy in childhood ALL
Siekmann, I-K., Dierck, K., Prall, S., Klokow, M., Strauss, J., Buhs, S., Wrzeszcz, A., Bockmayr, M., Beck, F., Trochimiuk, M., Gottschling, K., Martens, V., Khosh-Naucke, M., Gerull, H., Müller, J., Behrmann, L., Blohm, M., Zahedi, R. P., Jeremias, I., Sickmann, A., Nollau, P. & Horstmann, M. A., 09.10.2018, In: Blood Adv. 2, 19, p. 2554-2567 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Allogeneic haematopoietic stem cell transplantation eliminates alloreactive inhibitory antibodies after liver transplantation for bile salt export pump deficiency
Brinkert, F., Pukite, I., Krebs-Schmitt, D., Briem-Richter, A., Stindt, J., Häussinger, D., Keitel, V., Müller, I. & Grabhorn, E., 10.2018, In: J HEPATOL. 69, 4, p. 961-965 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gramer, G., Fang-Hoffmann, J., Feyh, P., Klinke, G., Monostori, P., Okun, J. G. & Hoffmann, G. F., 10.2018, In: WORLD J PEDIATR. 14, 5, p. 470-481 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer, S., Muschol, N. M., Schmidt, M., Rupprecht, M., Babin, K., Herrmann, J. & Stücker, R., 10.2018, In: J PEDIATR ORTHOPED. 38, 9, p. 478-483 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Meningitis
Dunay, G. A., 10.2018, Antiinfektiva-Leitfaden Pädiatrie: Ein Leitfaden zur ampirischen antiinfektiven Therapie . Kobbe, R., Schulze-Sturm, U., Hennings, A., Hilgarth, H. & Jochum, J. (eds.). p. 64 69 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education
Diagnostic and therapeutic recommendations for the treatment of hyperphenylalaninemia in patients 0-4 years of age
Muntau, A. C., du Moulin, M. & Feillet, F., 29.09.2018, In: ORPHANET J RARE DIS. 13, 1, p. 173Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity
Schmiesing, J., Storch, S., Dörfler, A-C., Schweizer, M., Makrypidi-Fraune, G., Thelen, M., Sylvester, M., Gieselmann, V., Meyer-Schwesinger, C., Koch-Nolte, F., Tidow, H., Mühlhausen, C., Waheed, A., Sly, W. S. & Braulke, T., 11.09.2018, In: CELL REP. 24, 11, p. 2946-2956 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Autophagic vacuolar myopathy is a common feature in CLN3 disease
Radke, J., Koll, R., Gill, E., Wiese, L., Schulz, A., Kohlschütter, A., Schuelke, M., Hagel, C., Stenzel, W. & Goebel, HH., 06.09.2018, In: ANN CLIN TRANSL NEUR. 5, 11, p. 1385-1393 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch, J., Rupprecht, M., Stuecker, R., Muschol, N. & Breyer, S. R., 09.2018, In: J Orthop Case Rep. 8, 5, p. 50-53 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Can untreated PKU patients escape from intellectual disability? A systematic review
van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Blau, N., Bulut, F. D., Casas, K., Didycz, B., Djordjevic, M., Federico, A., Feillet, F., Gizewska, M., Gramer, G., Hertecant, J. L., Hollak, C. E. M., Jørgensen, J. V., Karall, D., Landau, Y., Leuzzi, V., Mathisen, P., Moseley, K., Mungan, N. Ö., Nardecchia, F., Õunap, K., Powell, K. K., Ramachandran, R., Rutsch, F., Setoodeh, A., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B. & van Spronsen, F. J., 29.08.2018, In: ORPHANET J RARE DIS. 13, 1, p. 149Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel, D., Gehbauer, C., Bramswig, N. C., Schluth-Bolard, C., Venkataramanappa, S., van Gassen, K. L. I., Hempel, M., Haack, T. B., Baresic, A., Genetti, C. A., Funari, M. F. A., Lessel, I., Kuhlmann, L., Simon, R., Liu, P., Denecke, J., Kuechler, A., de Kruijff, I., Shoukier, M., Lek, M., Mullen, T., Lüdecke, H-J., Lerario, A. M., Kobbe, R., Krieger, T., Demeer, B., Lebrun, M., Keren, B., Nava, C., Buratti, J., Afenjar, A., Shinawi, M., Guillen Sacoto, M. J., Gauthier, J., Hamdan, F. F., Laberge, A-M., Campeau, P. M., Louie, R. J., Cathey, S. S., Prinz, I., Jorge, A. A. L., Terhal, P. A., Lenhard, B., Wieczorek, D., Strom, T. M., Agrawal, P. B., Britsch, S., Tolosa, E. & Kubisch, C., 01.08.2018, In: BRAIN. 141, 8, p. 2299-2311 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
Cystinose: Diagnostik, cystinentspeichernde Therapie und Transition
Kaufeld, J., Weber, L. T., Kurschat, C., Canaan-Kuehl, S., Brand, E., Oh, J. & Pape, L., 08.2018, In: INTERNIST. 59, 8, p. 861-867 7 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Nickel, M., Simonati, A., Jacoby, D., Lezius, S., Kilian, D., Van de Graaf, B., Pagovich, O. E., Kosofsky, B., Yohay, K., Downs, M., Slasor, P., Ajayi, T., Crystal, R. G., Kohlschütter, A., Sondhi, D. & Schulz, A., 08.2018, In: LANCET CHILD ADOLESC. 2, 8, p. 582-590 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Eculizumab in STEC-HUS - need for a proper randomized controlled trial
Loos, S., Oh, J. & Kemper, M. J., 08.2018, In: PEDIATR NEPHROL. 33, 8, p. 1277-1281 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effect of increased opiate exposure on three years neurodevelopmental outcome in extremely preterm infants
Giordano, V., Deindl, P., Fuiko, R., Unterasinger, L., Waldhoer, T., Cardona, F., Berger, A. & Olischar, M., 08.2018, In: EARLY HUM DEV. 123, p. 1-5 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Erfolgreiche Kardioversion bei neonatalem Vorhofflattern
Apostolidou, S., Stute, F., Tavares-de-Sousa, M., Hecher, K., Arndt, F., Kozlik-Feldmann, R. & Singer, D., 08.2018, In: Z GEBURTSH NEONATOL. 222, 4, p. 169-170 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Erratum zu: Operative Versorgung der degenerativen Halswirbelsäule
Tschugg, A., Meyer, B., Stoffel, M., Vajkoczy, P., Ringel, F., Eicker, S-O., Rohde, V. & Thomé, C., 08.2018, In: NERVENARZT. 89, 8, p. 927Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells
Di Lorenzo, G., Velho, R. V., Winter, D., Thelen, M., Ahmadi, S., Schweizer, M., De Pace, R., Cornils, K., Yorgan, T. A., Grüb, S., Hermans-Borgmeyer, I., Schinke, T., Müller-Loennies, S., Braulke, T. & Pohl, S., 08.2018, In: MOL CELL PROTEOMICS. 17, 8, p. 1612-1626 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neutral pH and low-glucose degradation product dialysis fluids induce major early alterations of the peritoneal membrane in children on peritoneal dialysis
Schaefer, B., Bartosova, M., Macher-Goeppinger, S., Sallay, P., Vörös, P., Ranchin, B., Vondrak, K., Ariceta, G., Zaloszyc, A., Bayazit, A. K., Querfeld, U., Cerkauskiene, R., Testa, S., Taylan, C., VandeWalle, J., Yap, Y., Krmar, R. T., Büscher, R., Mühlig, A. K., Drozdz, D., Caliskan, S., Lasitschka, F., Fathallah-Shaykh, S., Verrina, E., Klaus, G., Arbeiter, K., Bhayadia, R., Melk, A., Romero, P., Warady, B. A., Schaefer, F., Ujszaszi, A. & Schmitt, C. P., 08.2018, In: KIDNEY INT. 94, 2, p. 419-429 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pädiatrie hoch2
Muntau, A. C., 08.2018, 1 ed. München: Urban & Fischer. 680 p.Research output: Book/anthology › Collected edition/anthology
Recent advances of animal model of focal segmental glomerulosclerosis
Yang, J. W., Dettmar, A. K., Kronbichler, A., Gee, H. Y., Saleem, M., Kim, S. H. & Shin, J. I., 08.2018, In: CLIN EXP NEPHROL. 22, 4, p. 752-763 12 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
ESCAPE Study Group, 08.2018, In: J PEDIATR-US. 199, p. 22-28.e6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An Adapted Clinical Measurement Tool for the Key Symptoms of CLN2 Disease
Wyrwich, K. W., Schulz, A., Nickel, M., Slasor, P., Ajayi, T., Jacoby, D. & Kohlschütter, A., 16.07.2018, In: J Inborn Err Metab Scr (JIEMS). 6, p. 1-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aquaporins and hypomethylation in endothelia: Implications in cardiovascular disease
Barroso, M., 05.07.2018, In: FEBS OPEN BIO.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Best practices for the use of intracerebroventricular drug delivery devices
Slavc, I., Cohen-Pfeffer, J. L., Gururangan, S., Krauser, J., Lim, D. A., Maldaun, M., Schwering, C., Shaywitz, A. J. & Westphal, M., 07.2018, In: MOL GENET METAB. 124, 3, p. 184-188 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity
Klaus, G., Taylan, C., Büscher, R., Schmitt, C. P., Pape, L., Oh, J., Driemeyer, J., Galiano, M., König, J., Schürfeld, C., Spitthöver, R., Schaefer, J. R., Weber, L. T., Heibges, A. & Klingel, R., 07.2018, In: PEDIATR NEPHROL. 33, 7, p. 1199-1208 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An optimized whole blood assay measuring expression and activity of NLRP3, NLRC4 and AIM2 inflammasomes
Grinstein, L., Endter, K., Hedrich, C. M., Reinke, S., Luksch, H., Schulze, F., Robertson, A. A. B., Cooper, M. A., Rösen-Wolff, A. & Winkler, S., 06.2018, In: CLIN IMMUNOL. 191, p. 100-109 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Chapman, K. A., Gramer, G., Viall, S. & Summar, M. L., 06.2018, In: MOL GENET METAB REP. 15, p. 106-109 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of renal transplantation in small infants: a match-controlled analysis
Weitz, M., Laube, G. F., Schmidt, M., Krupka, K., Murer, L., Müller, D., Hoppe, B., Büscher, A., König, J., Pohl, M., Jungraithmayr, T., Thiel, F., Billing, H., Grenda, R., Rubik, J., Kaabak, M. M., Yalcinkaya, F., Topaloglu, R., Webb, N., Dello Strologo, L., Pape, L., Nadalin, S. & Tönshoff, B., 06.2018, In: PEDIATR NEPHROL. 33, 6, p. 1057-1068 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
p.D313Y is more than just a polymorphism in Fabry disease
du Moulin, M. & Muschol, N., 06.2018, In: CLIN GENET. 93, 6, p. 1258Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Recessive mutations in >VPS13D cause childhood-onset movement disorders
Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., Carecchio, M., Lubbe, S. J., Telegrafi, A., Henderson, L. B., Lorenzo, K., Wallace, S. E., Glass, I. A., Hamdan, F. F., Michaud, J. L., Rouleau, G. A. & Campeau, P. M., 06.2018, In: ANN NEUROL. 83, 6, p. 1089-1095 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Schulz, A., Ajayi, T., Specchio, N., de Los Reyes, E., Gissen, P., Ballon, D., Dyke, J. P., Cahan, H., Slasor, P., Jacoby, D., Kohlschütter, A. & CLN2 Study Group, 17.05.2018, In: NEW ENGL J MED. 378, 20, p. 1898-1907 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Danyukova, T., Ariunbat, K., Thelen, M., Brocke-Ahmadinejad, N., Mole, S. E. & Storch, S., 15.05.2018, In: HUM MOL GENET. 27, 10, p. 1711-1722 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Secondary BH4 deficiency links protein homeostasis to regulation of phenylalanine metabolism
Eichinger, A., Danecka, M. K., Möglich, T., Borsch, J., Woidy, M., Büttner, L., Muntau, A. C. & Gersting, S. W., 15.05.2018, In: HUM MOL GENET. 27, 10, p. 1732-1742 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Duration to Establish an Emergency Vascular Access and How to Accelerate It: A Simulation-Based Study Performed in Real-Life Neonatal Resuscitation Rooms
Schwindt, E. M., Hoffmann, F., Deindl, P., Waldhoer, T. J. & Schwindt, J. C., 05.2018, In: PEDIATR CRIT CARE ME. 19, 5, p. 468-476 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Inborn errors of metabolism and the human interactome: a systems medicine approach
Woidy, M., Muntau, A. C. & Gersting, S. W., 05.2018, In: J INHERIT METAB DIS. 41, 3, p. 285-296 12 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Newborn screening, a disease-changing intervention for glutaric aciduria type 1
Boy, N., Mengler, K., Thimm, E., Schiergens, K. A., Marquardt, T., 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, J., Hoffmann, G. F., Mühlhausen, C., Maier, E. M., Ensenauer, R., Garbade, S. F. & Kölker, S., 05.2018, In: ANN NEUROL. 83, 5, p. 970-979 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review