Hepatic CPT-deficiency type 1A is an autosomal recessive disorder of lipid metabolism caused by mutations of the CPT1A-Gene.
1. |
IJlst L et al. (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. |
2. |
Gobin S et al. (2002) Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. |
3. |
Haworth JC et al. (1992) Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. |
4. |
Stanley CA et al. (1992) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. |
5. |
Falik-Borenstein ZC et al. (1992) Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. |
6. |
Demaugre F et al. (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. |
7. |
Bougnères PF et al. (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. |
8. |
Innes AM et al. (2000) Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. |
9. |
Olpin SE et al. (2001) Features of carnitine palmitoyltransferase type I deficiency. |
10. |
Sim KG et al. (2001) Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. |
11. |
Roomets E et al. (2006) Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency. |
12. |
OMIM.ORG article Omim 255120 |