Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 517-524

  Vella, S ^a   Steiner, F ^a   Schlumbom, V ^b   Zurbrugg R ^a   Wiesmann, U N ^b   Schaffner, T ^b   Wermuth, B ^c  

^a Children's Hospital Wildermeth   (Switzerland)

^b Department of Pediatrics ^*  (Switzerland)

^c UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ARGININE; CARBAMOYL PHOSPHATE; CARBAMOYL PHOSPHATE SYNTHASE; HISTIDINE; ORNITHINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID;

ACIDURIA; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ELECTRON MICROSCOPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; EXON; FEMALE; FREEZING; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; MICHAELIS CONSTANT; MITOCHONDRION; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; SEQUENCE ANALYSIS; THAWING; X CHROMOSOME LINKAGE;

AMMONIA; CHILD; FEMALE; HUMANS; INFANT; KINETICS; LIVER; MICROSCOPY, ELECTRON; MITOCHONDRIA, LIVER; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; POLYMERASE CHAIN REACTION; PROTEINS;

EID: 0030808329     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005397329395     Document Type: Article

References (16)

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