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JIMD Reports|April 15, 2018
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 MutationAnja von Renesse, Susanne Morales-Gonzalez, Esther Gill, et al.JIMD Reports|May 1, 2017
Mutations in GMPPB Presenting with Pseudometabolic MyopathyChiara Panicucci, Chiara Fiorillo, Francesca Moro, et al.JIMD Reports|July 8, 2017
Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three CasesEmanuela Manea, Paul Gissen, Simon Pope, et al.JIMD Reports|July 12, 2018
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 PatientsGerald F Cox, Lorne A Clarke, Roberto Giugliani, et al.JIMD Reports|June 21, 2018
Apparent Acetaminophen Toxicity in a Patient with Transaldolase DeficiencyJasmine Lee-Barber, Taylor E English, Jacquelyn F Britton, et al.JIMD Reports|June 21, 2018
Evaluation of Disease Lesions in the Developing Canine MPS IIIA BrainLeanne K Winner, Neil R Marshall, Robert D Jolly, et al.JIMD Reports|June 21, 2018
RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic VariantsD Quelhas, J Jaeken, A Fortuna, et al.JIMD Reports|June 21, 2018
A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic EncephalopathyArcangela Iuso, Bader Alhaddad, Corina Weigel, et al.JIMD Reports|March 4, 2015
Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?Jákup Andreas Thomsen, Allan Meldgaard Lund, Jess Have Olesen, et al.JIMD Reports|March 4, 2015
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using TeriparatideAneal Khan, David A Hanley, Colleen McNeil, et al.Pageof 128