Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. | J Inherit Metab Dis;30(5): 816, 2007 Oct. | MEDLINE

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

Hwu, W-L; Chien, Y-H; Tang, N L S; Law, L-K; Lin, C-Y; Lee, N-C.

Affiliation

Hwu WL; Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, 7 Chung-Shan South Road, Taipei, 100, Taiwan. hwuwlntu@ntu.edu.tw

J Inherit Metab Dis ; 30(5): 816, 2007 Oct.

Article in En | MEDLINE | ID: mdl-17703373

Subject(s)

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Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Organic Cation Transport Proteins / Amino-Acid N-Acetyltransferase / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2007 Document type: Article Affiliation country:

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Collection: 01-internacional Database: MEDLINE Main subject: Carnitine / Organic Cation Transport Proteins / Amino-Acid N-Acetyltransferase / Metabolism, Inborn Errors Type of study: Diagnostic_studies / Prognostic_studies Limits: Child, preschool / Humans / Male Language: En Journal: J Inherit Metab Dis Year: 2007 Document type: Article Affiliation country: