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Journal of Inherited Metabolic Disease|April 22, 2008
Molecular analysis of the GlcNac-1-phosphotransferaseT Braulke, S Pohl, S StorchJournal of Inherited Metabolic Disease|April 22, 2008
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patientsD Concolino, G Muzzi, M Rapsomaniki, et al.Journal of Inherited Metabolic Disease|January 1, 1991
Allele-specific amplification of genomic DNA for detection of deletion mutations: identification of a French-Canadian Tay-Sachs mutationF Kaplan, B Boulay, J Bayleran, et al.Journal of Inherited Metabolic Disease|April 17, 2008
Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiencyD Li, N Karp, Q Wu, et al.Journal of Inherited Metabolic Disease|May 13, 2008
Looking beyond the basal ganglia: the spectrum of MRI changes in methylmalonic acidaemiaI Harting, A Seitz, S Geb, et al.Journal of Inherited Metabolic Disease|April 30, 2025
Propionic Acidemia-Induced Proarrhythmic Electrophysiological Alterations in Human iPSC-Derived CardiomyocytesAnabel Cámara-Checa, Mar Álvarez, Josu Rapún, et al.Journal of Inherited Metabolic Disease|June 3, 2025
Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data ApproachAli Mohajer, Anjana Sevagamoorthy, Karen Bean, et al.Journal of Inherited Metabolic Disease|February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical TrialsMattias Rudebeck, Nancy Braverman, Richard Chang, et al.Journal of Inherited Metabolic Disease|February 6, 2026
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in WomenL Lenzini, G Pintus, G Gugelmo, et al.Journal of Inherited Metabolic Disease|February 1, 2026
Unveiling Immune System Perturbations in Early Development Through Zebrafish Models of NADHX Repair DeficiencyMyrto Patraskaki, Najmesadat Seyedkatouli, Lisa Schlicker, et al.Pageof 429