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JIMD Reports|December 11, 2025
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case ReportJeremy Clark, Joel Smith, Yoke Leong, et al.JIMD Reports|December 5, 2025
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical PracticePer Lundkvist, Karin Blom Malmberg, Linda Lindström, et al.JIMD Reports|July 21, 2020
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletionAna Cotta, Charlotte L Alston, Sidney Baptista-Junior, et al.JIMD Reports|July 21, 2020
Treatment of infantile neuroaxonal dystrophy with RT001: A di-deuterated ethyl ester of linoleic acid: Report of two casesDarius Adams, Mark Midei, Jahannaz Dastgir, et al.JIMD Reports|July 21, 2020
A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJan Václavík, Lucie Mádrová, Štěpán Kouřil, et al.JIMD Reports|February 10, 2015
Asparagine Synthetase Deficiency: New Inborn Errors of MetabolismMajid Alfadhel, Muhammad Talal Alrifai, Daniel Trujillano, et al.JIMD Reports|February 26, 2015
Autophagy in Natural History and After ERT in Glycogenosis Type IICorrado Angelini, Anna C Nascimbeni, Marina FaninJIMD Reports|February 19, 2015
Innate and Adaptive Immune Response in Fabry DiseaseWladimir Mauhin, Olivier Lidove, Elisa Masat, et al.JIMD Reports|February 19, 2015
Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders GuidelinesJohannes Häberle, Martina HuemerJIMD Reports|February 15, 2015
Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1Francesca Angileri, Anne Bergeron, Geneviève Morrow, et al.Pageof 127