Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

Molecular Genetics and Metabolism

Volumn 109, Issue 1, 2013, Pages 21-27

  Schiff, Manuel ^a   Mohsen, Al Walid ^a   Karunanidhi, Anuradha ^a   McCracken, Elizabeth ^a   Yeasted, Renita ^a   Vockley, Jerry ^a,b  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Mitochondrial energy metabolism; Mitochondrial long chain fatty acid oxidation disorders; Newborn screening; Very long chain acyl CoA dehydrogenase deficiency

Indexed keywords

ACYLCARNITINE; GENOMIC DNA; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; LABORATORY TEST; MISSENSE MUTATION; MUTAGENESIS; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; ADULT; CELL CULTURE; CYTOLOGY; DEFICIENCY; DNA SEQUENCE; FEMALE; GENETICS; GENOTYPE; HETEROZYGOTE; LIPID METABOLISM, INBORN ERRORS; MALE; METABOLISM; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; PATHOPHYSIOLOGY;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; ADULT; ALLELES; CELLS, CULTURED; FEMALE; FIBROBLASTS; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; MITOCHONDRIAL DISEASES; MUSCULAR DISEASES; MUTATION, MISSENSE; NEONATAL SCREENING; SEQUENCE ANALYSIS, DNA;

PROKARYOTA;

EID: 84876075185     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.02.002     Document Type: Article

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