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Journal of Inherited Metabolic Disease|August 21, 2023
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defectsFelix Köpfer, Sven F Garbade, Kristina Klingbeil, et al.
Journal of Inherited Metabolic Disease|August 27, 2020
Quantitative retrospective natural history modeling for orphan drug developmentSven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.
Clinical Chemistry|April 15, 2006
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometrySusen Hartmann, Jürgen G Okun, Christiane Schmidt, et al.
International Journal of Neonatal Screening|January 22, 2024
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic FibrosisPia Maier, Sumathy Jeyaweerasinkam, Janina Eberhard, et al.
Molecular Genetics and Metabolism|September 19, 2024
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disordersMatthias Zielonka, Stefan Kölker, Sven F Garbade, et al.
Molecular Genetics and Metabolism|February 1, 2024
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle DisordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Journal of Inherited Metabolic Disease|September 22, 2022
Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screeningUlrike Mütze, Sven F Garbade, Florian Gleich, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disordersRoland Posset, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism|December 8, 2020
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disordersRoland Posset, Stefan Kölker, Florian Gleich, et al.
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