Showing results (991-1000 of 1,263) with videos related to
Sort By:
Pageof 127
JIMD Reports|June 1, 2017
Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient MiceMasashi Morita, Ayako Honda, Akira Kobayashi, et al.JIMD Reports|April 15, 2018
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA MiceNingning Guo, Victor DeAngelis, Changzhi Zhu, et al.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.Pageof 127