Research ExplorerResearch UnitsDepartment of Pediatrics Publications

Department of Pediatrics

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Publications

  1. 2018

  2. Psychologische Grundlagen der pädiatrischen Lebertransplantation

    Petersen, I., Dechow, A. S. & Schulz, K-H., 05.2018, In: PSYCHOTHER PSYCH MED. 68, 5, p. 212-224 13 p.

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

  3. Psychosoziale Evaluation von Transplantationspatienten – Empfehlungen für die Richtlinien zur Organtransplantation

    Kröncke, S., Greif-Higer, G., Albert, W., de Zwaan, M., Erim, Y., Eser-Valeri, D., Papachristou, C., Petersen, I., Schulz, K-H., Tigges-Limmer, K., Vitinius, F., Ziegler, K. & Künsebeck, H-W., 05.2018, In: PSYCHOTHER PSYCH MED. 68, 5, p. 179-184 6 p.

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

  4. Nephrotic Syndrome: Genetics, Mechanism, and Therapies

    Shin, J. I., Kronbichler, A., Oh, J. & Meijers, B., 20.04.2018, In: BIOMED RES INT . 2018, p. 6215946

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  5. CD32 Expression of Different Memory T Cell Subpopulations in the Blood and Lymph Nodal Tissue of HIV Patients and Healthy Controls Correlates With Immune Activation

    Wittner, M., Dunay, G. A., Kummer, S., Bockhorn, M., Hüfner, A., Schmiedel, S., Degen, O., van Lunzen, J., Eberhard, J. M. & Schulze Zur Wiesch, J., 01.04.2018, In: JAIDS-J ACQ IMM DEF. 77, 4, p. 345-349 5 p.

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

  6. Causes of renal oligohydramnios - impact on prenatal counseling and postnatal outcome

    Loos, S. & Kemper, M. J., 04.2018, In: PEDIATR NEPHROL. 33, 4, p. 541-545 5 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  7. Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study

    Koehne, T., Köhn, A., Friedrich, R. E., Kordes, U., Schinke, T., Muschol, N. & Kahl-Nieke, B., 04.2018, In: CLIN ORAL INVEST. 22, 3, p. 1541-1549 9 p.

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

  8. Genotype-phenotype variability of retinal manifestation in primary hyperoxaluria type 1

    Dulz, S., Bigdon, E., Atiskova, Y., Schuettauf, F., Cerkauskiene, R., Oh, J. & Brinkert, F., 04.2018, In: OPHTHALMIC GENET. 39, 2, p. 275-277 3 p.

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

  9. Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas: implications for glaucoma screening and driving ability

    Gramer, G. & Gramer, E., 04.2018, In: INT OPHTHALMOL. 38, 2, p. 429-441 13 p.

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

  10. Dunkelziffer nicht-akzidenteller thermischer Verletzungen im Kindesalter – Kinderschutzstrategien zur Reduktion

    Klinke, M., Schmidt, C. M., Tegtmeyer, L., Reinshagen, K., Boettcher, M. & Koenigs, I., 01.03.2018, In: KLIN PADIATR. 230, 2, p. 61-67 7 p.

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

  11. 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

  12. Universal screening for latent and active tuberculosis (TB) in asylum seeking children, Bochum and Hamburg, Germany, September 2015 to November 2016

    Mueller-Hermelink, M., Kobbe, R., Methling, B., Rau, C., Schulze-Sturm, U., Auer, I., Ahrens, F. & Brinkmann, F., 03.2018, In: EUROSURVEILLANCE. 23, 12, p. 4-9

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

  13. Venous anastomosis by piggyback technique to avoid twisting of the pediatric en bloc kidney grafts

    Li, J., Schild, R., Herrmann, J., Oh, J., Fischer, L. & Koch, M., 03.2018, In: PEDIATR TRANSPLANT. 22, 2, p. e13132

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

  14. Arterial catheterisation in neonates can result in severe ischaemic complications but does not impair long-term extremity function

    Deindl, P., Waldhör, T., Unterasinger, L., Berger, A. & Keck, M., 02.2018, In: ACTA PAEDIATR. 107, 2, p. 240-248 9 p.

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

  15. Presentation of pediatric Henoch-Schönlein purpura nephritis changes with age and renal histology depends on biopsy timing

    Hennies, I., Gimpel, C., Gellermann, J., Möller, K., Mayer, B., Dittrich, K., Büscher, A. K., Hansen, M., Aulbert, W., Wühl, E., Nissel, R., Schalk, G., Weber, L. T., Pohl, M., Wygoda, S., Beetz, R., Klaus, G., Fehrenbach, H., König, S., Staude, H., Beringer, O., Bald, M., Walden, U., von Schnakenburg, C., Bertram, G., Wallot, M., Häffner, K., Wiech, T., Hoyer, P. F., Pohl, M. & German Society of Pediatric Nephrology, 02.2018, In: PEDIATR NEPHROL. 33, 2, p. 277-286 10 p.

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

  16. Immunosuppression as efficient therapy for Eosinophilic Cholangitis: 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., 26.01.2018, Zeitschrift für Gastroenterologie. 01 ed. Georg Thieme Verlag KG, Vol. 56. p. E2-E89

    Research output: SCORING: Contribution to book/anthology › Conference contribution - Poster › Research

  17. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Warejko, J. K., Tan, W., Daga, A., Schapiro, D., Lawson, J. A., Shril, S., Lovric, S., Ashraf, S., Rao, J., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Schneider, R., Gee, H. Y., Schmidt, J. M., Vivante, A., van der Ven, A. T., Ityel, H., Chen, J., Sadowski, C. E., Kohl, S., Pabst, W. L., Nakayama, M., Somers, M. J. G., Rodig, N. M., Daouk, G., Baum, M., Stein, D. R., Ferguson, M. A., Traum, A. Z., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H., Zenker, M., Bakkaloglu, S. A., Müller, D., Noyan, A., Ozaltin, F., Cadnapaphornchai, M. A., Hashmi, S., Hopcian, J., Kopp, J. B., Benador, N., Bockenhauer, D., Bogdanovic, R., Stajić, N., Chernin, G., Ettenger, R., Fehrenbach, H., Kemper, M., Munarriz, R. L., Podracka, L., Büscher, R., Serdaroglu, E., Tasic, V., Mane, S., Lifton, R. P., Braun, D. A. & Hildebrandt, F., 06.01.2018, In: Clinical journal of the American Society of Nephrology : CJASN. 13, 1, p. 53-62 10 p.

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

  18. Endothelial Aquaporins and Hypomethylation: Potential Implications for Atherosclerosis and Cardiovascular Disease

    da Silva, I. V., Barroso, M., Moura, T., Castro, R. & Soveral, G., 03.01.2018, In: INT J MOL SCI. 19, 1, p. 130

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

  19. Acute hepatitis as a prequel to very severe aplastic anemia

    Weiler-Normann, C., Hartl, J., Weidemann, S., von Pein, U-M., Fiedler, W., Schramm, C., Brinkert, F., Kröger, N. & Christopeit, M., 01.2018, In: Z GASTROENTEROL. 56, 1, p. 51-54 4 p.

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

  20. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

    Berger, K. I., Burton, B. K., Lewis, G. D., Tarnopolsky, M., Harmatz, P. R., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R. & Shaywitz, A. J., 01.2018, In: JIMD reports. 42, p. 9-17 9 p.

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

  21. A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism

    Stockebrand, M., Sasani, A., Das, D., Hornig, S., Hermans-Borgmeyer, I., Lake, H. A., Isbrandt, D., Lygate, C. A., Heerschap, A., Neu, A. & Choe, C-U., 2018, In: FRONT PHYSIOL. 9, p. 773

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

  22. Ertrinkungsunfälle bei Kindern und Jugendlichen

    Olfe, J., Gottschalk, U. & Singer, D., 2018, In: Notfallmed up2date. 13, 02, p. 187-207

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

  23. Ertrinkungsunfälle bei Kindern und Jugendlichen

    Olfe, J., Gottschalk, U. & Singer, D., 2018, In: Pädiatrie up2date. 13, 04, p. 371-392

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

  24. Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany

    Pechmann, A., Langer, T., Schorling, D., Stein, S., Vogt, S., Schara, U., Kölbel, H., Schwartz, O., Hahn, A., Giese, K., Johannsen, J., Denecke, J., Weiß, C., Theophil, M. & Kirschner, J., 2018, In: J NEUROMUSCULAR DIS. 5, 2, p. 135-143 9 p.

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

  25. Neurodegenerative Erkrankungen des Kindesalters

    Schulz, A. & Nickel, M., 2018, In: MED GENET-BERLIN. 30, 2, p. 231-237

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

  26. Physiologie des Feten

    Singer, D., 2018, Die geburtshilfliche Anästhesie. Kranke, P. (ed.). 1 ed. Berlin: Springer, p. 121-135 15 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  27. Sehstörung und Parästhesien mit seltener Ursache

    Guder, P., Johannsen, J., Weiss, D., Lischka, T. & Denecke, J., 2018, In: MONATSSCHR KINDERH.

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

  28. Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

    Loso, J., Lund, N., Avanesov, M., Muschol, N., Lezius, S., Cordts, K., Schwedhelm, E. & Patten, M., 2018, In: FRONT CARDIOVASC MED. 5, p. 108

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

  29. Sexualfunktionen, Schwangerschaft und Geburt

    Rieger, L., Kämmerer, U. & Singer, D., 2018, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 8 ed. Stuttgart: Georg Thieme Verlag KG, p. 635-670 36 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  30. Vorhersage der Analgosedierungstiefe bei pädiatrischen Intensivpatienten mit Hilfe des Bispektral-Index

    Mauritz, M. D., 2018, Hamburg. 96 p.

    Research output: Book/anthology › Dissertations

  31. Wärmehaushalt und Temperaturregulation

    Gekle, M. & Singer, D., 2018, Physiologie. Pape, H-C., Kurtz, A. & Silbernagl, S. (eds.). 8 ed. Stuttgart: Georg Thieme Verlag KG, p. 566-584 19 p.

    Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review

  32. 2017

  33. 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

  34. De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

    Martin, S., Chamberlin, A., Shinde, D. N., Hempel, M., Strom, T. M., Schreiber, A., Johannsen, J., Ousager, L. B., Larsen, M. J., Hansen, L. K., Fatemi, A., Cohen, J. S., Lemke, J., Sørensen, K. P., Helbig, K. L., Lessel, D. & Abou Jamra, R., 07.12.2017, In: AM J HUM GENET. 101, 6, p. 1013-1020 8 p.

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

  35. Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

    König, J., Kranz, B., König, S., Schlingmann, K. P., Titieni, A., Tönshoff, B., Habbig, S., Pape, L., Häffner, K., Hansen, M., Büscher, A., Bald, M., Billing, H., Walden, U., Hampel, T., Staude, H., Riedl, M., Gretz, N., Lablans, M., Bergmann, C., Hildebrandt, F., Omran, H., Konrad, M. & Gesellschaft für Pädiatrische Nephrologie (GPN), 07.12.2017, In: Clinical journal of the American Society of Nephrology : CJASN. 12, 12, p. 1974-1983 10 p.

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

  36. Hepatic shear wave elastography in children under free-breathing and breath-hold conditions

    Jung, C., Groth, M., Petersen, K. U., Hammel, A., Brinkert, F., Grabhorn, E., Weidemann, S. A., Busch, J., Adam, G. & Herrmann, J., 12.2017, In: EUR RADIOL. 27, 12, p. 5337-5343

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

  37. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

    Glasgow, R. I. C., Thompson, K., Barbosa, I. A., He, L., Alston, C. L., Deshpande, C., Simpson, M. A., Morris, A. A. M., Neu, A., Löbel, U., Hall, J., Prokisch, H., Haack, T. B., Hempel, M., McFarland, R. & Taylor, R. W., 12.2017, In: NEUROGENETICS. 18, 4, p. 227-235 9 p.

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

  38. 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

  39. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants

    Dröge, C., Bonus, M., Baumann, U., Klindt, C., Lainka, E., Kathemann, S., Brinkert, F., Grabhorn, E., Pfister, E-D., Wenning, D., Fichtner, A., Gotthardt, D. N., Weiss, K. H., McKiernan, P. J., Puri, R. D., Verma, I. C., Kluge, S., Gohlke, H., Schmitt, L., Kubitz, R., Häussinger, D. & Keitel, V., 12.2017, In: J HEPATOL. 67, 6, p. 1253-1264

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

  40. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

    Petersen, B-S., August, D., Abt, R., Alddafari, M., Atarod, L., Baris, S., Bhavsar, H., Brinkert, F., Buchta, M., Bulashevska, A., Chee, R., Cordeiro, A. I., Dara, N., Dückers, G., Elmarsafy, A., Frede, N., Galal, N., Gerner, P., Glocker, E-O., Goldacker, S., Hammermann, J., Hasselblatt, P., Havlicekova, Z., Hübscher, K., Jesenak, M., Karaca, N. E., Karakoc-Aydiner, E., Kharaghani, M. M., Kilic, S. S., Kiykim, A., Klein, C., Klemann, C., Kobbe, R., Kotlarz, D., Laass, M. W., Leahy, T. R., Mesdaghi, M., Mitton, S., Neves, J. F., Öztürk, B., Pereira, L. F., Rohr, J., Restrepo, J. L. R., Ruzaike, G., Saleh, N., Seneviratne, S., Senol, E., Speckmann, C., Tegtmeyer, D., Thankam, P., van der Werff Ten Bosch, J., von Bernuth, H., Zeissig, S., Zeissig, Y., Franke, A. & Grimbacher, B., 12.2017, In: INFLAMM BOWEL DIS. 23, 12, p. 2109-2120 12 p.

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

  41. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I., Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 12.2017, In: NEUROGENETICS. 18, 4, p. 185-194 10 p.

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

  42. Association of Serum Soluble Urokinase Receptor Levels With Progression of Kidney Disease in Children

    Schaefer, F., Trachtman, H., Wühl, E., Kirchner, M., Hayek, S. S., Anarat, A., Duzova, A., Mir, S., Paripovic, D., Yilmaz, A., Lugani, F., Arbeiter, K., Litwin, M., Oh, J., Matteucci, M. C., Gellermann, J., Wygoda, S., Jankauskiene, A., Klaus, G., Dusek, J., Testa, S., Zurowska, A., Caldas Afonso, A., Tracy, M., Wei, C., Sever, S., Smoyer, W., Reiser, J. & ESCAPE Trial Consortium and the 4C Study Group, 06.11.2017, In: JAMA PEDIATR. 171, 11, p. e172914

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

  43. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

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

  44. A first-in-human clinical study of a new SP-B and SP-C enriched synthetic surfactant (CHF5633) in preterm babies with respiratory distress syndrome

    Sweet, D. G., Turner, M. A., Straňák, Z., Plavka, R., Clarke, P., Stenson, B. J., Singer, D., Goelz, R., Fabbri, L., Varoli, G., Piccinno, A., Santoro, D. & Speer, C. P., 11.2017, In: ARCH DIS CHILD-FETAL. 102, 6, p. F497-F503

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

  45. Are All Amplitude-Integrated Electroencephalogram Systems Equal?

    Werther, T., Olischar, M., Naulaers, G., Deindl, P., Klebermass-Schrehof, K. & Stevenson, N., 11.2017, In: NEONATOLOGY. 112, 4, p. 394-401 8 p.

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

  46. Site-1 protease and lysosomal homeostasis

    Velho, R. V., De Pace, R., Klünder, S., Di Lorenzo, G., Schweizer, M., Braulke, T. & Pohl, S., 11.2017, In: BBA-MOL CELL RES. 1864, 11 Pt B, p. 2162-2168

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

  47. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

    Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T., Nickerson, D. A., Kubisch, C., Bamshad, M. J., Lessel, D. & University of Washington Center for Mendelian Genomics, 11.2017, In: AM J MED GENET A. 173, 11, p. 3098-3103

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

  48. The mutation p.D313Y is associated with organ manifestation in Fabry disease

    du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.

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

  49. Complement Activation in Peritoneal Dialysis-Induced Arteriolopathy

    Bartosova, M., Schaefer, B., Bermejo, J. L., Tarantino, S., Lasitschka, F., Macher-Goeppinger, S., Sinn, P., Warady, B. A., Zaloszyc, A., Parapatics, K., Májek, P., Bennett, K. L., Oh, J., Aufricht, C., Schaefer, F., Kratochwill, K. & Schmitt, C. P., 18.10.2017, In: J AM SOC NEPHROL.

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

  50. Treatment of brain disease in the mucopolysaccharidoses

    Scarpa, M., orchard, P., Schulz, A., Dickson, P. I., Haskins, M. E., Escolar, M. L. & Giugliani, R., 16.10.2017, In: MOL GENET METAB. 122S, p. 25-34 10 p.

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

  51. Immunohistochemical and serological characterization of membranous nephropathy in children and adolescents

    Dettmar, A. K., Wiech, T., Kemper, M. J., Soave, A., Rink, M., Oh, J., Stahl, R. A. K., Hoxha, E. & Pediatric MN Study Group, 15.10.2017, In: PEDIATR NEPHROL. 33, 3, p. 463-472

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

  52. The complete European guidelines on phenylketonuria: diagnosis and treatment

    van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H. & van Spronsen, F. J., 12.10.2017, In: ORPHANET J RARE DIS. 12, 1, p. 162

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

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