Treatment of a citrin-deficient patient at the early stage of adult-onset type II citrullinaemia with arginine and sodium pyruvate

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Mutoh, K ^a   Kurokawa, K ^a   Kobayashi, K ^b   Saheki, T ^b,c  

^a Shimada Municipal Hospital   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c TOKUSHIMA BUNRI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; BIOLOGICAL MARKER; CARRIER PROTEIN; PYRUVIC ACID; SLC25A13 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BLOOD; CASE REPORT; CITRULLINEMIA; DRUG COMBINATION; FEMALE; GENETICS; HUMAN; LOW CARBOHYDRATE DIET; METABOLISM; MUTATION; ORAL DRUG ADMINISTRATION; TREATMENT OUTCOME;

ADMINISTRATION, ORAL; ADOLESCENT; ARGININE; BIOLOGICAL MARKERS; CITRULLINEMIA; DIET, CARBOHYDRATE-RESTRICTED; DRUG THERAPY, COMBINATION; FEMALE; HUMANS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; PYRUVIC ACID; TREATMENT OUTCOME;

EID: 84859896989     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0914-x     Document Type: Article

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