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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.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
Neuropediatrics|October 6, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDGNastassja Himmelreich, Sven F Garbade, Jürgen G Okun, et al.
Orphanet Journal of Rare Diseases|December 24, 2015
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type INikolas Boy, Jana Heringer, Gisela Haege, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 13, 2018
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuriaSven F Garbade, Nan Shen, Nastassja Himmelreich, et al.
Molecular Genetics and Metabolism|November 25, 2022
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendationsNastassja Himmelreich, Riccardo Montioli, Sven F Garbade, et al.
Plos One|January 28, 2017
Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small IntestineWolfgang Stremmel, Kathrin V Schmidt, Vera Schuhmann, et al.
Orphanet Journal of Rare Diseases|June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and SwitzerlandSusanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
Molecular Genetics and Metabolism|September 3, 2024
Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylationLivia Interdonato, Nastassja Himmelreich, Sven F Garbade, et al.
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