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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2024
Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysisSvenja Scharre, Katharina Mengler, Elena Schnabel, et al.Amino Acids|December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseasesKatharina Küper, Gernot Poschet, Julia Rossmann, et al.Pediatrics|July 23, 2024
Vitamin B12 Deficiency Newborn ScreeningUlrike Mütze, Florian Gleich, Dorothea Haas, et al.Journal of Inherited Metabolic Disease|December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsHeiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.Annals of Clinical and Translational Neurology|August 31, 2019
Early prediction of phenotypic severity in Citrullinemia Type 1Matthias Zielonka, Stefan Kölker, Florian Gleich, et al.Journal of Inherited Metabolic Disease|September 26, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-AnalysisAnna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, et al.Scientific Reports|March 19, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disordersRoland Posset, Friederike Epp, Sven F Garbade, et al.Human Mutation|January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduriaMatthias Zielonka, Sven F Garbade, Florian Gleich, et al.Pediatric Research|June 29, 2007
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)Friederike Hörster, Matthias R Baumgartner, Caroline Viardot, et al.Plos One|March 1, 2019
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validationPéter Monostori, Glynis Klinke, Jana Hauke, et al.Pageof 13