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JIMD Reports|June 22, 2016
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier StrategyJürgen G Okun, Hongying Gan-Schreier, Tawfeq Ben-Omran, et al.Pediatrics|October 14, 2020
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningUlrike Mütze, Sven F Garbade, Gwendolyn Gramer, et al.Molecular Genetics and Metabolism|November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesisThomas Opladen, Martin Lindner, Anibh M Das, et al.Annals of Neurology|April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle DisordersRoland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.Journal of Inherited Metabolic Disease|March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendationsStefan Kölker, Ernst Christensen, James V Leonard, et al.Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.Journal of Inherited Metabolic Disease|December 23, 2015
Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.Journal of Inherited Metabolic Disease|January 14, 2018
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.Journal of Inherited Metabolic Disease|April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinuriasAnna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.Journal of Inherited Metabolic Disease|April 24, 2016
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersRoland Posset, Angeles Garcia-Cazorla, Vassili Valayannopoulos, et al.Pageof 8