A novel mutation identified in carnitine palmitoyltransferase II deficiency

Molecular Genetics and Metabolism

Volumn 63, Issue 2, 1998, Pages 110-115

  Yang, Bing Zhi ^a   Ding, Jia Huan ^a   Roe, Diane ^a   Dewese, Tracy ^a   Day, Donald W ^a,b   Roe, Charles R ^a  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b Medical City Children's Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ACUTE KIDNEY FAILURE; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; HUMAN; MALE; MITOCHONDRIAL RESPIRATION; MUSCLE CRAMP; MYALGIA; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; SEQUENCE ANALYSIS;

EID: 0031685634     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1997.2656     Document Type: Article

References (17)

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