Department of Pediatrics
Publications
- 2013
Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Nabuurs, C. I., Choe, C-U., Veltien, A., Kan, H. E., van Loon, L. J. C., Rodenburg, R. J. T., Matschke, J., Wieringa, B., Kemp, G. J., Isbrandt, D. & Heerschap, A., 2013, In: J PHYSIOL-LONDON. 591, Pt 2, p. 571-592 Pt 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.
Schild, R-S., Knüppel, T., Konrad, M., Bergmann, C., Trautmann, A., Kemper, M. J., Wu, K., Yaklichkin, S., Wang, J., Pestell, R., Müller-Wiefel, D. E., Schaefer, F. & Weber, S., 2013, In: NEPHROL DIAL TRANSPL. 28, 1, p. 227-232 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Effect of the dialysis fluid buffer on peritoneal membrane function in children
Schmitt, C. P., Nau, B., Gemulla, G., Bonzel, K. E., Hölttä, T., Testa, S., Fischbach, M., John, U., Kemper, M. J., Sander, A., Arbeiter, K. & Schaefer, F., 2013, In: CLIN J AM SOC NEPHRO. 8, 1, p. 108-115 8 p., 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Epidemiology and morbidity of Epstein-Barr virus infection in pediatric renal transplant recipients: a multicenter, prospective study
Höcker, B., Fickenscher, H., Delecluse, H-J., Böhm, S., Küsters, U., Schnitzler, P., Pohl, M., John, U., Kemper, M. J., Fehrenbach, H., Wigger, M., Holder, M., Schröder, M., Billing, H., Fichtner, A., Feneberg, R., Sander, A., Köpf-Shakib, S., Süsal, C. & Tönshoff, B., 2013, In: CLIN INFECT DIS. 56, 1, p. 84-92 9 p., 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Establishment of the first newborn screening program in the People's Democratic Republic of Laos.
Hoehn, T., Lukacs, Z., Stehn, M., Mayatepek, E., Philavanh, K. & Bounnack, S., 2013, In: J TROP PEDIATRICS. 59, 2, p. 95-99 2.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hereditäre epileptische Enzephalopathie mit Amelogenesis imperfecta Kohlschütter-Tönz-Syndrom (KTZS) – Bericht über einen weiteren, postum erfassten Patienten aus der Zentralschweiz
Tönz, O., Steiner, B., Schossig, A., Zschocke, J. & Kohlschütter, A., 2013, In: Epileptologie. 30, p. 167-174 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
I-cell disease and Pseudo-Hurler Polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
Braulke, T., Raas-Rothschild, A. & Kornfeld, S., 2013, The Online Metabolic & Molecular Bases of Inherited Disease,. New York: McGraw-Hill, New York, 138Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Isogeneic MSC application in a rat model of acute renal allograft rejection modulates immune response but does not prolong allograft survival
Koch, M., Lehnhardt, A., Hu, X., Brunswig-Spickenheier, B., Stolk, M., Bröcker, V., Noriega, M., Seifert, M. & Lange, C., 2013, In: TRANSPL IMMUNOL. 29, 1-4, p. 43-50 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Choe, C-U., Nabuurs, C., Stockebrand, M., Neu, A., Nunes, P., Morellini, F., Sauter, K., Schillemeit, S., Hermans-Borgmeyer, I., Marescau, B., Heerschap, A. & Isbrandt, D., 2013, In: HUM MOL GENET. 22, 1, p. 110-123 1.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Boy, N., Haege, G., Heringer, J., Assmann, B., Mühlhausen, C., Ensenauer, R., Maier, E. M., Lücke, T., Hoffmann, G. F., Müller, E., Burgard, P. & Kölker, S., 2013, In: J INHERIT METAB DIS. 36, 3, p. 525-533 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL.
Hykollari, A., Balog, C. I. A., Rendić, D., Braulke, T., Wilson, I. B. H. & Paschinger, K., 2013, In: J PROTEOME RES. 12, 3, p. 1173-1187 15 p., 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pädiatrische Notfälle
Singer, D., 2013, Notfallmedizin. Scholz, J., Sefrin, P., Böttiger, BW., Dörges, V. & Wenzel, V. (eds.). 3. ed. Stuttgart: Georg Thieme Verlag KG, p. 359-387Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Education › peer-review
Protein arginine methylation is more prone to inhibition by S-adenosylhomocysteine than DNA methylation in vascular endothelial cells
Esse, R., Rocha, M. S., Barroso, M., Florindo, C., Teerlink, T., Kok, R. M., Smulders, Y. M., Rivera, I., Leandro, P., Koolwijk, P., Castro, R., Blom, H. J. & de Almeida, I. T., 2013, In: PLOS ONE. 8, 2, p. e55483Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.
Bravo, A. P., Forkert, N. D., Schulz, A., Löbel, U., Fiehler, J., Ding, X., Sedlacik, J., Rosenkranz, M. & Goebell, E., 2013, In: CLIN NEURORADIOL. 23, 3, p. 189-196 8 p., 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transcapsular arterial neovascularization of liver transplants increases the risk of intraoperative bleeding during retransplantation.
Herrmann, J., Herden, U., Ganschow, R., Petersen, K. U., Schmid, F., Derlin, T., Koops, A., Peine, S., Sterneck, M., Fischer, L. & Helmke, K., 2013, In: TRANSPL INT. 26, 4, p. 419-427 9 p., 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transmission of glomerular permeability factor soluble urokinase plasminogen activator receptor (suPAR) from a mother to child.
Kemper, M. J., Wei, C. & Reiser, J., 2013, In: AM J KIDNEY DIS. 61, 2, p. 352 2.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
β1 integrin signaling maintains human epithelial progenitor cell survival in situ and controls proliferation, apoptosis and migration of their progeny
Ernst, N., Yay, A., Bíró, T., Tiede, S., Humphries, M., Paus, R. & Kloepper, J. E., 2013, In: PLOS ONE. 8, 12, p. e84356Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2012
The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition
Wang, H., Vinnikov, I., Shahzad, K., Bock, F., Ranjan, S., Wolter, J., Kashif, M., Oh, J., Bierhaus, A., Nawroth, P., Kirschfink, M., Conway, E. M., Madhusudhan, T. & Isermann, B., 01.12.2012, In: THROMB HAEMOSTASIS. 108, 6, p. 1141-53 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia
Zittel, S., Nickel, M., Wolf, N. I., Uyanik, G., Gläser, D., Ganos, C., Gerloff, C., Münchau, A. & Kohlschütter, A., 01.11.2012, In: J NEUROL. 259, 11, p. 2498-500 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients
Abicht, A., Dusl, M., Gallenmüller, C., Guergueltcheva, V., Schara, U., Della Marina, A., Wibbeler, E., Almaras, S., Mihaylova, V., von der Hagen, M., Huebner, A., Chaouch, A., Müller, J. S. & Lochmüller, H., 10.2012, In: HUM MUTAT. 33, 10, p. 1474-84 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho, D., Kim, J. C., Miousse, I. R., Fung, S., du Moulin, M., Buers, I., Suormala, T., Burda, P., Frapolli, M., Stucki, M., Nürnberg, P., Thiele, H., Robenek, H., Höhne, W., Longo, N., Pasquali, M., Mengel, E., Watkins, D., Shoubridge, E. A., Majewski, J., Rosenblatt, D. S., Fowler, B., Rutsch, F. & Baumgartner, M. R., 10.2012, In: NAT GENET. 44, 10, p. 1152-5 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome
Sheikhzadeh, S., Kade, C., Keyser, B., Stuhrmann, M., Arslan-Kirchner, M., Rybczynski, M., Bernhardt, A. M., Habermann, C. R., Hillebrand, M., Mir, T., Robinson, P. N., Berger, J., Detter, C., Blankenberg, S., Schmidtke, J. & von Kodolitsch, Y., 09.2012, In: CLIN GENET. 82, 3, p. 240-247 8 p., 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Schmerzmanagement bei Kindern in der Schweiz
Boettcher, M. & Göttler, S., 09.2012, In: MONATSSCHR KINDERH. 160, 9, p. 887-894Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Advances in TERS (tip-enhanced Raman scattering) for biochemical applications
Treffer, R., Böhme, R., Deckert-Gaudig, T., Lau, K., Tiede, S., Lin, X. & Deckert, V., 08.2012, In: BIOCHEM SOC T. 40, 4, p. 609-14 6 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion: initial experience in visualisation of renal arteries in free-breathing children without renal artery abnormality
Klee, D., Lanzman, R. S., Blondin, D., Schmitt, P., Oh, J., Salgin, B., Mayatepek, E., Antoch, G. & Schaper, J., 01.07.2012, In: PEDIATR RADIOL. 42, 7, p. 785-90 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cantú syndrome is caused by mutations in ABCC9
van Bon, B. W. M., Gilissen, C., Grange, D. K., Hennekam, R. C. M., Kayserili, H., Engels, H., Reutter, H., Ostergaard, J. R., Morava, E., Tsiakas, K., Isidor, B., Le Merrer, M., Eser, M., Wieskamp, N., de Vries, P., Steehouwer, M., Veltman, J. A., Robertson, S. P., Brunner, H. G., de Vries, B. B. A. & Hoischen, A., 08.06.2012, In: AM J HUM GENET. 90, 6, p. 1094-101 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi, M., Anttila, V., Schulz, A., Calafato, S., Jakkula, E., Riesch, E., Myllykangas, L., Kalimo, H., Topçu, M., Gökben, S., Alehan, F., Lemke, J. R., Alber, M., Palotie, A., Kopra, O. & Lehesjoki, A-E., 01.06.2012, In: J MED GENET. 49, 6, p. 391-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A simple clinical model to estimate the probability of Marfan syndrome
Sheikhzadeh, S., Kusch, M. L., Rybczynski, M., Kade, C., Keyser, B., Bernhardt, A. M., Hillebrand, M., Mir, T. S., Fuisting, B., Robinson, P. N., Berger, J., Lorenzen, V., Schmidtke, J., Blankenberg, S. & von Kodolitsch, Y., 06.2012, In: QJM-INT J MED. 105, 6, p. 527-535 9 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome
Schossig, A., Wolf, N. I., Kapferer, I., Kohlschütter, A. & Zschocke, J., 01.05.2012, In: EUR J MED GENET. 55, 5, p. 319-22 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
Barroso, M., Rocha, M. S., Esse, R., Gonçalves, I., Gomes, A. Q., Teerlink, T., Jakobs, C., Blom, H. J., Loscalzo, J., Rivera, I., de Almeida, I. T. & Castro, R., 05.2012, In: AMINO ACIDS. 42, 5, p. 1903-11 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Steenweg, M. E., Ghezzi, D., Haack, T., Abbink, T. E. M., Martinelli, D., van Berkel, C. G. M., Bley, A., Diogo, L., Grillo, E., Te Water Naudé, J., Strom, T. M., Bertini, E., Prokisch, H., van der Knaap, M. S. & Zeviani, M., 05.2012, In: BRAIN. 135, Pt 5, p. 1387-94 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel pharmacological chaperones that correct phenylketonuria in mice
Santos-Sierra, S., Kirchmair, J., Perna, A. M., Reiss, D., Kemter, K., Röschinger, W., Glossmann, H., Gersting, S. W., Muntau, A. C., Wolber, G. & Lagler, F. B., 15.04.2012, In: HUM MOL GENET. 21, 8, p. 1877-87 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding, X-Q., Bley, A., Ohlenbusch, A., Kohlschütter, A., Fiehler, J., Zhu, W. & Lanfermann, H., 04.2012, In: J MAGN RESON IMAGING. 35, 4, p. 926-932 4.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
Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie - eine klinische Studie
Reiter, C., Gramer, E. & Gramer, G., 03.2012, In: KLIN MONATSBL AUGENH. 229, 3, p. 241-5 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Intermittent flushing improves cannula patency compared to continuous infusion for peripherally inserted venous catheters in newborns: results from a prospective observational study
Perez, A., Feuz, I., Brotschi, B. & Bernet, V., 19.01.2012, In: J PERINAT MED. 40, 3, p. 311-4 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., Le Merrer, M., Guest, G., Lambot, K., Tazarourte-Pinturier, M-F., Chassaing, N., Roche, O., Feenstra, I., Loechner, K., Deshpande, C., Garber, S. J., Chikarmane, R., Steinmann, B., Shahinyan, T., Martorell, L., Davies, J., Smith, W. E., Kahler, S. G., McCulloch, M., Wraige, E., Loidi, L., Höhne, W., Martin, L., Hadj-Rabia, S., Terkeltaub, R. & Rutsch, F., 13.01.2012, In: AM J HUM GENET. 90, 1, p. 25-39 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane
Hillebrand, M., Gersting, S. W., Lotz-Havla, A. S., Schäfer, A., Rosewich, H., Valerius, O., Muntau, A. C. & Gärtner, J., 02.01.2012, In: J BIOL CHEM. 287, 1, p. 210-21 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
Ovunc, B., Ashraf, S., Vega-Warner, V., Bockenhauer, D., Elshakhs, N. A. S., Joseph, M., Hildebrandt, F., Gesellschaft für Pädiatrische Nephrologie (GPN) & Kemper, M. J., 01.01.2012, In: NEPHRON. 120, 3, p. c139-46Research 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
Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.
Ding, X-Q., Bley, A., Kohlschütter, A., Fiehler, J. & Lanfermann, H., 01.2012, In: AM J MED GENET A. 158A, 1, p. 257-60 4 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
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
Aktuelle Ergebnisse notfallmedizinischer Forschung 2011/2012
Hinkelbein, J., Bernhard, M., Braunecker, S., Meixensberger, J., Singer, D., Thiele, H. & Böttiger, B. W., 2012, In: Notfallmed up2date. 7, 4, p. 327-346 4.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.
Loos, S., Ahlenstiel, T., Kranz, B., Staude, H., Pape, L., Härtel, C., Vester, U., Buchtala, L., Benz, K., Hoppe, B., Beringer, O., Krause, M., Müller, D., Pohl, M., Lemke, J., Hillebrand, G., Kreuzer, M., König, J., Wigger, M., Konrad, M., Haffner, D., Oh, J. & Kemper, M. J., 2012, In: CLIN INFECT DIS. 55, 6, p. 753-759 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel mannose 6-phosphate specific antibody fragment for diagnosis of Mucolipidosis type II and III
Pohl, S., Braulke, T. & Müller-Loennies, S., 2012, Anticarbohydrate antibodies - From molecular basis to clinical application. Springer, Wien, p. 307-325 19 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
El Scheich, T., Marquard, J., Westhoff, B., Schneider, A., Cupisti, K., Oh, J., Meissner, T., Mayatepek, E. & Klee, D., 2012, In: J PEDIATR ENDOCR MET. 25, 3-4, p. 239-44 6 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Bioluminescence resonance energy Transfer: an emerging tool for the detection of protein-protein interaction in living cells
Gersting, S. W., Lotz-Havla, A. S. & Muntau, A. C., 2012, In: Methods Mol Biol. 815, p. 253-63 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comorbidities in chronic pediatric peritoneal dialysis patients: a report of the International Pediatric Peritoneal Dialysis Network
Neu, A. M., Sander, A., Borzych-Duzalka, D., Watson, A. R., Vallés, P. G., Ha, I. S., Patel, H., Askenazi, D., Balasz-Chmielewska, I., Lauronen, J., Groothoff, J. W., Feber, J., Schaefer, F., Warady, B. A., IPPN investigators & Kemper, M. J., 2012, In: PERITON DIALYSIS INT. 32, 4, p. 410-8 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review