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Journal of Inherited Metabolic Disease|January 1, 1984
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndromeJ A Del Valle, M J Garcia, B Merinero, et al.Journal of Inherited Metabolic Disease|August 13, 1998
Identification of a common mutation (R245H) in Sanfilippo A patients from The NetherlandsB Weber, J J van de Kamp, W J Kleijer, et al.Journal of Inherited Metabolic Disease|May 3, 2026
Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected IndividualsKexin Fu, Yonglin Huang, Valerie Bowen, et al.Journal of Inherited Metabolic Disease|May 3, 2026
Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional StatusDolores Garcia-Arenas, Aida Ormazabal, Paula Isern, et al.Journal of Inherited Metabolic Disease|April 29, 2026
Short-Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS IIIHelen Beard, Sonia Dayan, Karissa Barthelson, et al.Journal of Inherited Metabolic Disease|April 9, 2026
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle DisordersCurtis R Coughlin, John Barber, Chaya N Murali, et al.Journal of Inherited Metabolic Disease|April 27, 2026
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort StudyNicola Longo, Barbara K Burton, Shailja Vaghela, et al.Journal of Inherited Metabolic Disease|March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage DisorderZoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.Journal of Inherited Metabolic Disease|April 15, 2026
Differential Trafficking Phenotypes of NPC1 Mutant Proteins Reveal Distinct Cholesterol Accumulation ProfilesSanaa Abdelmalek Mahmoud, AhmedElmontaser Mergani, Maren von Köckritz-Blickwede, et al.Journal of Inherited Metabolic Disease|August 21, 2026
An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic DisordersMachteld M Oud, Elise A Ferreira, Clara D M van Karnebeek, et al.Pageof 429