Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Ferdinandusse, Sacha
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. [electronic resource] - Human mutation Sep 2007 - 904-12 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20535 doi
Acyl-CoA Oxidase
Amino Acid Sequence
Biomarkers--analysis
Cells, Cultured
Cohort Studies
DNA Mutational Analysis
Fatty Acids--analysis
Fibroblasts--chemistry
Genotype
Humans
Isoenzymes--genetics
Lipid Metabolism, Inborn Errors--genetics
Molecular Sequence Data
Mutation
Oxidoreductases--genetics
Peroxisomal Disorders--genetics
Phenotype
Sequence Homology, Amino Acid
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. [electronic resource] - Human mutation Sep 2007 - 904-12 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20535 doi
Acyl-CoA Oxidase
Amino Acid Sequence
Biomarkers--analysis
Cells, Cultured
Cohort Studies
DNA Mutational Analysis
Fatty Acids--analysis
Fibroblasts--chemistry
Genotype
Humans
Isoenzymes--genetics
Lipid Metabolism, Inborn Errors--genetics
Molecular Sequence Data
Mutation
Oxidoreductases--genetics
Peroxisomal Disorders--genetics
Phenotype
Sequence Homology, Amino Acid