TwoCPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: Functional analysis and association with polymorphic haplotypes and two clinical phenotypes

Molecular cloning: A laboratory manual

1990 • 85,659 citations

CARNITINE

1988 • 610 citations

A simple and efficient method for direct cloning of PCR products using ddT-tailed vectors

1991 • 381 citations

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients

1993 • 201 citations

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

1991 • 200 citations

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

1992 • 157 citations

Characterization of the mitochondrial carnitine palmitoyltransferase enzyme system. II. Use of detergents and antibodies.

1987 • 149 citations

Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II

1991 • 143 citations

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

1988 • 131 citations

cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.

1991 • 124 citations

Inter-tissue and inter-species characteristics of the mitochondrial carnitine palmitoyltransferase enzyme system.

1990 • 119 citations

Regulation of fatty acid oxidation in mammalian liver

1993 • 111 citations

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

1995 • 94 citations

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

1996 • 82 citations

Phenotypic diversity, allelic series and modifier genes

1994 • 76 citations

Carnitine palmitoyltransferase deficiencies

1985 • 71 citations

Assignment of the Human Carnitine Palmitoyltransferase II Gene (CPT1) to Chromosome 1p32

1994 • 61 citations

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

1994 • 56 citations

Two novel gene mutations (Glu174→Lys, Phe383→Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency

1996 • 39 citations

Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects

1992 • 34 citations

Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency

1996 • 31 citations

Fatty acid mitochondrial β-oxidation and hypoglycaemia in children

1996 • 29 citations

The precursor of the biotin-binding subunit of mammalian propionyl-CoA carboxylase can be translocated into mitochondria as apo- or holoprotein

1991 • 27 citations

Molecular Cloning of cDNAs Encoding Human Carnitine Acetyltransferase and Mapping of the Corresponding Gene to Chromosome 9q34.1

1994 • 25 citations

Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene

1993 • 14 citations