关键词: 3-hidroxiacil CoA-deshidrogenasa de cadena larga Beta-oxidation Betaoxidación Cribado neonatal Long-chain 3-hydroxyacyl-CoA dehydrogenase Newborn screening Retinitis pigmentosa Retinosis pigmentaria
Mesh : 3-Hydroxyacyl CoA Dehydrogenases Cardiomyopathies Child Humans Infant, Newborn Lipid Metabolism, Inborn Errors Mitochondrial Myopathies Mitochondrial Trifunctional Protein / deficiency Nervous System Diseases Retinitis Pigmentosa / diagnosis Rhabdomyolysis
来 源: DOI:10.1016/j.oftale.2020.07.013 PDF(Sci-hub)