Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

IJlst, L; Mandel, H; Oostheim, W; Ruiter, J P; Gutman, A; Wanders, R J

IJlst, L; Mandel, H; Oostheim, W; Ruiter, J P; Gutman, A; Wanders, R J.

Affiliation

IJlst L; Department of Clinical Chemistry, University of Amsterdam, Academic Medical Center, 1100 DE Amsterdam, The Netherlands.

J Clin Invest ; 102(3): 527-31, 1998 Aug 01.

Article in En | MEDLINE | ID: mdl-9691089

Subject(s)

Carnitine O-Palmitoyltransferase/deficiency; Isoenzymes/deficiency; Lipid Metabolism, Inborn Errors/genetics; Amino Acid Sequence; Biological Transport; Carnitine O-Palmitoyltransferase/genetics; Carnitine O-Palmitoyltransferase/physiology; Consanguinity; Consensus Sequence; Dicarboxylic Acids/urine; Fatty Acids/metabolism; Female; Humans; Hypoglycemia/etiology; Infant; Isoenzymes/genetics; Isoenzymes/physiology; Lipid Metabolism, Inborn Errors/enzymology; Lipid Metabolism, Inborn Errors/urine; Liver/enzymology; Mitochondria/metabolism; Molecular Sequence Data; Sequence Alignment; Sequence Homology, Amino Acid; Species Specificity

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carnitine O-Palmitoyltransferase / Isoenzymes / Lipid Metabolism, Inborn Errors Type of study: Etiology_studies / Prognostic_studies Limits: Female / Humans / Infant Language: En Journal: J Clin Invest Year: 1998 Type: Article Affiliation country: Netherlands

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