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Tags: 2003, American Journal Of Human Genetics, Amino Acid Sequence, Backlog, Base Sequence, Bonafe L, Child, Chromosome Mapping, Davis GE, Difeo A, Dowling O, Exons, Female, Fibroma/genetics, Focal/genetics, Genes, Genetic Markers, Glomerulosclerosis, Glucksman MJ, Grum-Tokars V, Humans, Infant, Journal Article, Kayserili H, Male, Martignetti JA, Martin GS, Membrane Proteins/genetics, Missense, Models, Molecular, Mutation, Narla G, Norton K, P.H.S., Paller AS, Pedigree, Protein Conformation, Protein Structure, Ramirez MC, Recessive, Research Support, Secondary, Syndrome, Teebi AS, Tukel T, U.S. Gov't, Yuksel-Apak M
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
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