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Neuropediatrics|August 18, 2001
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiencyM Baethmann, U Wendel, G F Hoffmann, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 24, 2004
Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patientsKarin Stiasny-Kolster, J Carsten Möller, Johannes Zschocke, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Looking forward--an evidence-based approach to glutaryl-CoA dehydrogenase deficiencyS Kölker, P Burgard, J G Okun, et al.
Brain : a Journal of Neurology|December 31, 2015
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolismDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Stem Cell Research|May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism|July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiencyHeiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Metabolites|February 25, 2023
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric AciduriaElaine Zaunseder, Ulrike Mütze, Sven F Garbade, et al.
Stem Cell Research|August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
BMC Medical Education|November 28, 2024
A novel blended and interprofessional approach to pediatric emergency training: self-assessment, perception, and perceived long-term effectsRonny Lehmann, Michaela Klinke Petrowsky, Anke Seitz, et al.
JIMD Reports|May 6, 2015
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningGwendolyn Gramer, Gisela Haege, Junmin Fang-Hoffmann, et al.
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