Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.

Journal of inherited metabolic disease

Volumn 30, Issue 5, 2007, Pages 816-

  Hwu, W L ^a   Chien, Y H ^a   Tang, N L ^a   Law, L K ^a   Lin, C Y ^a   Lee, N C ^a  

^a NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID ACETYLTRANSFERASE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; CARNITINE; NAGS PROTEIN, HUMAN; ORGANIC CATION TRANSPORTER; SLC22A5 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; BLOOD; CASE REPORT; DIET SUPPLEMENTATION; ENZYMOLOGY; FATALITY; GENETICS; HUMAN; INBORN ERROR OF METABOLISM; MALE; METABOLISM; MUTATION; PRESCHOOL CHILD;

AMINO-ACID N-ACETYLTRANSFERASE; BENZOIC ACID; CARNITINE; CHILD, PRESCHOOL; DIETARY SUPPLEMENTS; FATAL OUTCOME; HUMANS; MALE; METABOLISM, INBORN ERRORS; MUTATION; ORGANIC CATION TRANSPORT PROTEINS; PHENYLBUTYRATES;

EID: 35449005177     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0594-y     Document Type: Article

References (0)