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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.JIMD Reports|March 13, 2015
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase DeficiencyLise Aksglaede, Mette Christensen, Jess H Olesen, et al.JIMD Reports|April 6, 2015
Erratum to: Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the LiteratureEvelina Maines, Grazia Morandi, Francesca Olivieri, et al.Pageof 127