Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients

Pediatric Research

Volumn 49, Issue 3, 2001, Pages 326-331

  Bouchard, Luigi ^a   Robert, Mair France ^a   Vinarov, Dmitriy ^b   Stanley, Charles A ^c   Thompson, Geoffrey N ^d,f   Morris, Andrew ^e,g   Leonard, James V ^e   Quant, Patti ^e   Hsu, Betty Y L ^c   Boneh, Avihu ^d   Boukaftane, Youssef ^a   Ashmarina, Lyudmila ^a   Wang, Shupei ^a   Miziorko, Henry ^b   Mitchell, Grant A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f Hôpital Ste Justine ^*  (Australia)

^g ROYAL VICTORIA INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; MITOCHONDRIAL ENZYME;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE DEFICIENCY; HYPOGLYCEMIA; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0035098142     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200103000-00005     Document Type: Article

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