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JIMD Reports|November 8, 2024
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1Denis Cyr, Michel Boutin, Bruno Maranda, et al.
JIMD Reports|November 8, 2024
Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional surveySara Olofsson, Sofia Löfvendahl, Julia Widén, et al.
JIMD Reports|November 8, 2024
Expanding the genetic and clinical spectrum of SLC25A42-associated disorders and testing of pantothenic acid to improve CoA level in vitroKatharina Heckmann, Arcangela Iuso, Janine Reunert, et al.
JIMD Reports|November 8, 2024
Calculation of continuous reference intervals for biological parameters exhibiting strong age-dependent level changes: Its application to glycosaminoglycans and sialic acid in urineCarlos Emilio Rodríguez, Mette Diswall, Anders Olsson, et al.
JIMD Reports|May 26, 2017
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2APatricia L Hall, Regina Laine, John J Alexander, et al.
JIMD Reports|April 18, 2022
Opportunities and challenges in machine learning-based newborn screening-A systematic literature reviewElaine Zaunseder, Saskia Haupt, Ulrike Mütze, et al.
JIMD Reports|April 18, 2022
Sodium-glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b?Magdalena Kaczor, Milena Greczan, Karolina Kierus, et al.
JIMD Reports|July 13, 2022
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatmentEran Tallis, Cecile L Karsenty, Amanda B Grimes, et al.
JIMD Reports|March 14, 2022
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR-based urinary metabolomicsLucia Laugwitz, Laimdota Zizmare, Vidiyaah Santhanakumaran, et al.
JIMD Reports|March 14, 2022
A novel variant of fructose-1,6-bisphosphatase gene identified in an adult with newly diagnosed hepatitis CHelena Fawdry, Rebecca Gorrigan, Radha Ramachandran, et al.
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