Condition: Carnitine palmitoyl transferase 1A deficiency


rs148059333 in CPT1A gene and Carnitine palmitoyl transferase 1A deficiency PMID 27066452 2016 Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency.

PMID 21962599 2012 Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.

PMID 15669684 2004 Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation.

PMID 12111367 2002 Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

PMID 9691089 1998 Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

PMID 11441142 2001 Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme.

PMID 14517221 2003 Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

PMID 15110323 2004 Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.

PMID 12189492 2002 Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

PMID 11350182 2001 Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

PMID 20696606 2011 Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.

PMID 11350183 2001 Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program.