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Defects in activation and transport of fatty acids

  • Published:1999-06 Issue:4 Volume:22 Page:428-441
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Brivet M.1,Boutron A.1,Slama A.1,Costa C.1,Thuillier L.2,Demaugre F.3,Rabier D.2,Saudubray J. M.4,Bonnefont J. P.25

Affiliation:

1. Department of Biochemistry; AP-HP Hôpital de Bicêtre; Le Kremlin Bicêtre France

2. ; Department of Biochemistry; Hôpital Necker; Paris France

3. ; INSERM U370, Hôpital Necker; Paris France

4. ; Department of Pediatrics; Hôpital Necker; Paris France

5. ; INSERM U393, Hôpital Necker; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference69 articles.

1. Carnitine palmitoyl transferase I deciency (CPT I), three affected siblings in one family (Abstract);Al Aqeel;J Inher Metab Dis,1998

2. Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency;Bergman;Pediatr Res,1994

3. Carnitine;Bieber;Annu Rev Biochem,1988

4. Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression;Bonnefont;Am J Hum Genet,1996

5. Fasting hypoglycermia resulting from hepatic carnitine palmitoyltransferase deficiency;Bougneres;J Pediatr,1981

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