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Tags: 2005, Acyl-CoA Dehydrogenase, Andresen BS, Backlog, Bischoff C, Bonham JR, Cardiomyopathies/diagnosis/genetics, Carnitine/analogs & derivatives/metabolism, Chakrapani A, Clark S, Downing M, Exons, Fatty Acids/metabolism, Fibroblasts/metabolism, Gregersen N, Homozygote, Humans, Inborn Errors/diagnosis/genetics, Journal Article, Journal Of Inherited Metabolic Disease, Lipid Metabolism, Long-Chain/deficiency, Longitudinal Studies, Male, Manning NJ, Mitochondria/pathology, Multienzyme Complexes/deficiency, Muntoni F, Mutation, Olpin SE, Olsen RK, Phenotype, Polyneuropathies/diagnosis/genetics, Pourfarzam M, Prognosis, Rhabdomyolysis/diagnosis/genetics, Sharrard M, Turnbull DN
Tags: 2006, 3-Hydroxyacyl CoA Dehydrogenases/deficiency, Annals Of Neurology, Backlog, Barth PG, Blood Chemical Analysis, Boltshauser E, Bone and Bones/anatomy & histology/pathology, Brain/anatomy & histology/pathology, Child, Cohort Studies, Dekker C, Denis S, Duran M, Enoyl-CoA Hydratase/deficiency, Ferdinandusse S, Fibroblasts/cytology/metabolism, Gartner J, Humans, Inborn Errors, Infant, Isomerases/deficiency, Journal Article, Kidney/anatomy & histology/pathology, Life Expectancy, Lipid Metabolism, Liver/anatomy & histology/pathology, Longitudinal Studies, Macaya A, Magnetic Resonance Imaging, Majoie CB, Mooyer PA, Multienzyme Complexes/deficiency, Peroxisomal Disorders/classification/pathology/physiopathology, Poll-The BT, Preschool, Questionnaires, Soorani-Lunsing RJ, Wanders RJ