Department of Pediatrics
Publications
- 2013
Growing experience with mTOR inhibitors in pediatric solid organ transplantation
Ganschow, R., Pape, L., Sturm, E., Bauer, J., Melter, M., Gerner, P., Hoecker, B., Ahlenstiel, T., Kemper, M., Brinkert, F., Sachse, M. M. & Tönshoff, B., 01.11.2013, In: PEDIATR TRANSPLANT. 17, 7, p. 694-706 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
Preisler, N., Lukacs, Z., Vinge, L., Madsen, K. L., Husu, E., Hansen, R. S., Duno, M., Andersen, H., Laub, M. & Vissing, J., 01.11.2013, In: MOL GENET METAB. 110, 3, p. 287-9 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
NCL diseases - clinical perspectives
Schulz, A., Kohlschütter, A., Mink, J., Simonati, A. & Williams, R., 01.11.2013, In: BBA-MOL BASIS DIS. 1832, 11, p. 1801-6 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
Thies, B., Meyer-Schwesinger, C., Lamp, J., Schweizer, M., Koeller, D. M., Ullrich, K., Braulke, T. & Mühlhausen, C., 01.10.2013, In: BBA-MOL BASIS DIS. 1832, 10, p. 1463-72 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Differential regulation of AMPK activation in leptin- and creatine-deficient mice
Stockebrand, M., Sauter, K., Neu, A., Isbrandt, D. & Choe, C., 01.10.2013, In: FASEB J. 27, 10, p. 4147-56 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Spatial memory tasks in rodents: what do they model?
Morellini, F., 01.10.2013, In: CELL TISSUE RES. 354, 1, p. 273-86 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice
Schweizer, M., Markmann, S., Braulke, T. & Kollmann, K., 01.10.2013, In: ULTRASTRUCT PATHOL. 37, 5, p. 366-72 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies
Choe, C., Atzler, D., Wild, P. S., Carter, A. M., Böger, R. H., Ojeda Echevarria, F. M., Simova, O., Stockebrand, M., Lackner, K., Nabuurs, C., Marescau, B., Streichert, T., Müller, C., Lüneburg, N., De Deyn, P. P., Benndorf, R. A., Baldus, S., Gerloff, C., Blankenberg, S., Heerschap, A., Grant, P. J., Magnus, T., Zeller, T., Isbrandt, D. & Schwedhelm, E., 24.09.2013, In: CIRCULATION. 128, 13, p. 1451-61 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypereosinophiles Syndrom (HES) nach Lebertransplantation
Aulbert, W., Breuer, C., Oh, J., Briem-Richter, A., Kobbe, R. & Ganschow, R., 14.09.2013, Monatszeitschrift Kinderheilkunde: Abstracts 2013, 109. Jahrestagung der DGKJ. Supplement 2 ed. Springer, Vol. 161. p. 95-256Research output: SCORING: Contribution to book/anthology › Conference contribution - Poster › Research
Physiology and Pathophysiology of Thermoregulation in the Neonate
Singer, D., 07.09.2013, In: BIOMED ENG-BIOMED TE.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Liver allograft pathology in healthy pediatric liver transplant recipients
Briem-Richter, A., Ganschow, R., Sornsakrin, M., Brinkert, F., Schirmer, J., Schäfer, H. & Grabhorn, E., 01.09.2013, In: PEDIATR TRANSPLANT. 17, 6, p. 543-9 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Successful outcome of severe Amanita phalloides poisoning in children
Grabhorn, E., Nielsen, D., Hillebrand, G., Brinkert, F., Herden, U., Fischer, L. & Ganschow, R., 01.09.2013, In: PEDIATR TRANSPLANT. 17, 6, p. 550-5 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency
Afroze, B., Yunus, Z., Steinmann, B. & Santer, R., 01.09.2013, In: EUR J PEDIATR. 172, 9, p. 1249-53 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Adenosine receptor antagonists including caffeine alter fetal brain development in mice
Silva, C. G., Métin, C., Fazeli, W., Machado, N. J., Darmopil, S., Launay, P-S., Ghestem, A., Nesa, M-P., Bassot, E., Szabó, E., Baqi, Y., Müller, C. E., Tomé, A. R., Ivanov, A., Isbrandt, D., Zilberter, Y., Cunha, R. A., Esclapez, M. & Bernard, C., 07.08.2013, In: SCI TRANSL MED. 5, 197, p. 197ra104Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Postnatal disruption of the disintegrin/metalloproteinase ADAM10 in brain causes epileptic seizures, learning deficits, altered spine morphology, and defective synaptic functions
Prox, J., Bernreuther, C., Altmeppen, H., Grendel, J., Glatzel, M., D'Hooge, R., Stroobants, S., Ahmed, T., Balschun, D., Willem, M., Lammich, S., Isbrandt, D., Schweizer, M., Horré, K., De Strooper, B. & Saftig, P., 07.08.2013, In: J NEUROSCI. 33, 32, p. 12915-28, 12928aResearch output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita
Pleimes, M., Göttler, S. & Weibel, L., 01.08.2013, In: J PEDIATR-US. 163, 2, p. 604-604.e1Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Education
Komplexe gastrointestinale Fehlbildung – Kombinierte Ösophagus- und Duodenalatresie
Schmidtke, S., Diehl, W., Herrmann, J., Bergholz, R. & Singer, D., 01.08.2013, In: Z GEBURTSH NEONATOL. 217, 4, p. 147-8 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term neurodevelopmental outcome with hypoxic-ischemic encephalopathy
Perez, A., Ritter, S., Brotschi, B., Werner, H., Caflisch, J., Martin, E. & Latal, B., 01.08.2013, In: J PEDIATR-US. p. 454-9 163(2).Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cellular hypomethylation promotes endothelial cell activation
Barroso, M., Florindo, C., Tavares de Almeida, I., Castro, R., Loscalzo, J. & Brigham, C. D. O., 24.07.2013, In: J INHERIT METAB DIS. 36, 1 SupplementResearch output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Is rituximab effective in childhood nephrotic syndrome? Yes and no
Kemper, M. J., Lehnhardt, A., Zawischa, A. & Oh, J., 03.07.2013, In: PEDIATR NEPHROL.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn, G. M., Morin, I., Whiteman, D. A. H. & Hunter Outcome Survey Investigators, 01.07.2013, In: EUR J PEDIATR. 172, 7, p. 965-70 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
Vissing, J., Lukacs, Z. & Straub, V., 01.07.2013, In: JAMA NEUROL. 70, 7, p. 923-7 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Lipska, B. S., Iatropoulos, P., Maranta, R., Caridi, G., Ozaltin, F., Anarat, A., Balat, A., Gellermann, J., Trautmann, A., Erdogan, O., Saeed, B., Emre, S., Bogdanovic, R., Azocar, M., Balasz-Chmielewska, I., Benetti, E., Caliskan, S., Mir, S., Melk, A., Ertan, P., Baskin, E., Jardim, H., Davitaia, T., Wasilewska, A., Drozdz, D., Szczepanska, M., Jankauskiene, A., Higuita, L. M. S., Ardissino, G., Ozkaya, O., Kuzma-Mroczkowska, E., Soylemezoglu, O., Ranchin, B., Medynska, A., Tkaczyk, M., Peco-Antic, A., Akil, I., Jarmolinski, T., Firszt-Adamczyk, A., Dusek, J., Simonetti, G. D., Gok, F., Gheissari, A., Emma, F., Krmar, R. T., Fischbach, M., Printza, N., Simkova, E., Mele, C., Ghiggeri, G. M., Schaefer, F. & PodoNet Consortium, 01.07.2013, In: KIDNEY INT. 84, 1, p. 206-13 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M., Frints, S., Wilcken, B., von der Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C., Mancini, G. M. & Salomons, G. S., 01.07.2013, In: J MED GENET. 50, 7, p. 463-72 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil, S., Anjema, K., van Spronsen, F. J., Lambruschini, N., Burlina, A., Bélanger-Quintana, A., Couce, M. L., Feillet, F., Cerone, R., Lotz-Havla, A. S., Muntau, A. C., Bosch, A. M., Meli, C. A. P., Billette de Villemeur, T., Kern, I., Riva, E., Giovannini, M., Damaj, L., Leuzzi, V. & Blau, N., 01.06.2013, In: PEDIATRICS. 131, 6, p. e1881-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Ungewöhnlicher Haut- und Skelettbefund – Infantile Myofibromatose
Warlitz, C., Kobbe, R., Helmke, K., Höger, P. & Singer, D., 01.06.2013, In: Z GEBURTSH NEONATOL. 217, 3, p. 112-3 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Peripartale Kardiomyopathie: Interdisziplinäre Herausforderung
Löser, B., Tank, S., Hillebrand, G., Goldmann, B., Diehl, W., Biermann, D., Schirmer, J. & Reuter, D. A., 01.05.2013, In: ANAESTHESIST. 62, 5, p. 343-54 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones, S. A., Parini, R., Harmatz, P., Giugliani, R., Fang, J., Mendelsohn, N. J. & HOS Natural History Working Group on behalf of HOS Investigators, 01.05.2013, In: MOL GENET METAB. 109, 1, p. 41-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Gender differences in solitary functioning kidney: do they affect renal outcome? Response
Kummer, S. & Oh, J., 10.04.2013, In: PEDIATR NEPHROL.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A., Nuoffer, J-M., Parini, R., Read, M-H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. & Salomons, G. S., 04.04.2013, In: AM J HUM GENET. 92, 4, p. 627-31 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fehlbildungen der Niere und ableitenden Harnwege – Autosomal-rezessive polyzystische Nierenerkrankung (ARPKD)
Diemert, A., Klaassen, I., Kemper, M. J., Hecher, K. & Singer, D., 01.04.2013, In: Z GEBURTSH NEONATOL. 217, 2, p. 46-9 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Seltene Fehlbildung der Anogenitalregion – Fetale Enterolithiasis als Vorbote einer Penisagenesie
Hillebrand, G., Glosemeyer, P., Helmke, K. & Singer, D., 01.04.2013, In: Z GEBURTSH NEONATOL. 217, p. 72-73Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cytokine concentrations and regulatory T cells in living donor and deceased donor liver transplant recipients
Briem-Richter, A., Leuschner, A., Haag, F., Grabhorn, E. & Ganschow, R., 01.03.2013, In: PEDIATR TRANSPLANT. 17, 2, p. 185-90 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnosing mucopolysaccharidosis IVA
Wood, T. C., Harvey, K., Beck, M., Burin, M. G., Chien, Y-H., Church, H. J., D'Almeida, V., van Diggelen, O. P., Fietz, M., Giugliani, R., Harmatz, P., Hawley, S. M., Hwu, W-L., Ketteridge, D., Lukacs, Z., Miller, N., Pasquali, M., Schenone, A., Thompson, J. N., Tylee, K., Yu, C. & Hendriksz, C. J., 01.03.2013, In: J INHERIT METAB DIS. 36, 2, p. 293-307 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Management of anemia in children receiving chronic peritoneal dialysis
Borzych-Duzalka, D., Bilginer, Y., Ha, I. S., Bak, M., Rees, L., Cano, F., Munarriz, R. L., Chua, A., Pesle, S., Emre, S., Urzykowska, A., Quiroz, L., Ruscasso, J. D., White, C., Pape, L., Ramela, V., Printza, N., Vogel, A., Kuzmanovska, D., Simkova, E., Müller-Wiefel, D. E., Sander, A., Warady, B. A., Schaefer, F. & International Pediatric Peritoneal Dialysis Network (IPPN) Registry, 01.03.2013, In: J AM SOC NEPHROL. 24, 4, p. 665-76 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pseudotumor cerebri bei einem 8 Monate alten Säugling
Brückner, F., Kohl, B., Tholen, P., Bauer, A., Mühlhausen, C., Tibussek, D. & Püst, B., 01.03.2013, In: Päd Praxis. 80, 2, p. 217-221 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
Beck, B. B., Baasner, A., Buescher, A., Habbig, S., Reintjes, N., Kemper, M. J., Sikora, P., Mache, C., Pohl, M., Stahl, M., Toenshoff, B., Pape, L., Fehrenbach, H., Jacob, D. E., Grohe, B., Wolf, M. T., Nürnberg, G., Yigit, G., Salido, E. C. & Hoppe, B., 01.02.2013, In: EUR J HUM GENET. 21, 2, p. 162-72 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif
Franke, M., Braulke, T. & Storch, S., 11.01.2013, In: J BIOL CHEM. 288, 2, p. 1238-49 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Grünert, S. C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O. A., Baumgartner, M. R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J. B., Steinfeld, R., Beblo, S., Koch, H-G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J. P., Superti-Furga, A., Schwab, K. O. & Sass, J. O., 10.01.2013, In: ORPHANET J RARE DIS. 8, p. 6Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis
Bartsch, U., Galliciotti, G., Jofre, G. F., Jankowiak, W., Hagel, C. & Braulke, T., 01.01.2013, In: INVEST OPHTH VIS SCI. 54, 10, p. 6952-9 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Human factor H-related protein 2 (CFHR2) regulates complement activation
Eberhardt, H. U., Buhlmann, D., Hortschansky, P., Chen, Q., Böhm, S., Kemper, M. J., Wallich, R., Hartmann, A., Hallström, T., Zipfel, P. F. & Skerka, C., 01.01.2013, In: PLOS ONE. 8, 11, p. e78617Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Kohlschütter, A., 01.01.2013, Handbook of Clinical Neurology: PEDIATRIC NEUROLOGY, PT III . Dulac, O., Lassonde, M. & Sarnat, HB. (eds.). 1 ed. Vol. 113. p. 1611-8 8 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Transfer › peer-review
NCL Disorders: Frequent Causes of Childhood Dementia
Schulz, A. & Kohlschütter, A., 01.01.2013, In: IRAN J CHILD NEUROL. 7, 1, p. 1-8 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Protective effects of the mTOR inhibitor everolimus on cytoskeletal injury in human podocytes are mediated by RhoA signaling
Jeruschke, S., Büscher, A. K., Oh, J., Saleem, M. A., Hoyer, P. F., Weber, S. & Nalbant, P., 01.01.2013, In: PLOS ONE. 8, 2, p. e55980Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique
Denecke, J., 01.01.2013, Haemostasis: Methods and Protocols. 1 ed. Springer, Vol. 992. p. 383-386 4 p. (Methods in Molecular Biology ).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
What are effects of a spaced activation of virtual patients in a pediatric course?
Maier, E. M., Hege, I., Muntau, A. C., Huber, J. & Fischer, M. R., 01.01.2013, In: BMC MED EDUC. 13, p. 45Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses
Gramer, G., Förl, B., Springer, C., Weimer, P., Haege, G., Mackensen, F., Müller, E., Völcker, H. E., Hoffmann, G. F., Lindner, M., Krastel, H. & Burgard, P., 01.2013, In: MOL GENET METAB. 108, 1, p. 1-7 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
Brinkert, F., Lehnhardt, A., Montoya, C., Helmke, K., Schäfer, H., Fischer, L., Nashan, B., Bergmann, C., Ganschow, R. & Kemper, M. J., 2013, In: TRANSPL INT. 26, 6, p. 640-650 11 p., 6.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Hofer, J., Janecke, A. R., Zimmerhackl, L. B., Riedl, M., Rosales, A., Giner, T., Cortina, G., Haindl, C. J., Petzelberger, B., Pawlik, M., Jeller, V., Vester, U., Gadner, B., Van Husen, M., Moritz, M. L., Würzner, R., Jungraithmayr, T. & Group, G-A. HUS. S., 2013, In: CLIN J AM SOC NEPHRO. 8, 3, p. 407-415 3.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Das Hämolytisch Urämische Syndrom im Kindesalter
Loos, S., Oh, J. & Kemper, M. J., 2013, In: NIEREN HOCHDRUCK. 42, 3, p. 126-133 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review