Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families

Pediatric Research

Volumn 43, Issue 5, 1998, Pages 579-584

  Wexler, Isaiah D ^a,d   Kerr, Douglas S ^a   Du, Yuefen ^a   Kaung, Marie M ^a   Stephenson, William ^a   Lusk, Marilyn M ^a   Wappner, Rebecca S ^b   Higgins, Joseph J ^c  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b INDIANA UNIVERSITY   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; BIOTIN; CARBOXYLYASE; CYSTEINE; CYTOSINE; MITOCHONDRIAL ENZYME; OXALOACETIC ACID; PYRUVATE CARBOXYLASE; PYRUVIC ACID; THYMINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ENZYME ACTIVITY; FAMILY STUDY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INFANT; LACTIC ACIDOSIS; LYMPHOCYTE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOLECULAR GENETICS; NEWBORN; PRIORITY JOURNAL; PROTEIN DOMAIN; PYRUVATE CARBOXYLASE DEFICIENCY; SKIN FIBROBLAST;

EID: 0031956954     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199805000-00004     Document Type: Article

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