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JIMD Reports|September 11, 2015
Causes of Death in Adults with Mitochondrial DiseaseMarlieke Barends, Lotte Verschuren, Eva Morava, et al.JIMD Reports|September 26, 2015
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA DepletionGhadi Antoun, Skye McBride, Jason R Vanstone, et al.JIMD Reports|January 18, 2015
Molecular Diagnosis of Hereditary Fructose Intolerance: Founder Mutation in a Community from IndiaSunita Bijarnia-Mahay, Sireesha Movva, Neerja Gupta, et al.JIMD Reports|August 9, 2015
Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe DiseaseAgnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Tylki-SzymańskaJIMD Reports|October 1, 2015
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical GalactosaemiaHenning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, et al.JIMD Reports|December 20, 2015
A Short Synthetic Peptide Mimetic of Apolipoprotein A1 Mediates Cholesterol and Globotriaosylceramide Efflux from Fabry FibroblastsUlrike Schueler, Christine Kaneski, Alan Remaley, et al.JIMD Reports|October 7, 2015
Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria MicePriscila Nicolao Mazzola, Vibeke Bruinenberg, Karen Anjema, et al.JIMD Reports|October 10, 2015
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians GroupS Sirrs, C Hollak, M Merkel, et al.JIMD Reports|November 14, 2015
In Utero Diagnosis of Niemann-Pick Type C in the Absence of Family HistoryE Colin, M Barth, F Boussion, et al.JIMD Reports|March 24, 2016
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic DisordersAmy Brown, Louise Crowe, Avihu Boneh, et al.Pageof 127