Defects in activation and transport of fatty acids

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

The Mitochondrial Carnitine Palmitoyltransferase System — From Concept to Molecular Analysis

1997 • 1,573 citations

CARNITINE

1988 • 610 citations

Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonyl-CoA.

1978 • 586 citations

Observations on the affinity for carnitine, and malonyl-CoA sensitivity, of carnitine palmitoyltransferase I in animal and human tissues. Demonstration of the presence of malonyl-CoA in non-hepatic tissues of the rat

1983 • 549 citations

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1973 • 476 citations

Recognition and management of fatty acid oxidation defects: A series of 107 patients

1999 • 325 citations

Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

1988 • 306 citations

Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome

1980 • 249 citations

Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function.

1993 • 219 citations

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake

1991 • 208 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

Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy

1990 • 189 citations

A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane

1992 • 183 citations

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency

1981 • 173 citations

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.

1992 • 157 citations

The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins

1997 • 147 citations

Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II.

1990 • 144 citations

Lethal Neonatal Multiorgan Deficiency of Carnitine Palmitoyltransferase II

1991 • 143 citations

Cloning of the Human Carnitine-Acylcarnitine Carrier cDNA and Identification of the Molecular Defect in a Patient

1997 • 140 citations

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

1995 • 140 citations

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

1988 • 131 citations

Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. The minor component is identical to the liver enzyme.

1994 • 126 citations

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

1991 • 124 citations

Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.

1993 • 108 citations

Evidence for Intermediate Channeling in Mitochondrial β -Oxidation

1995 • 103 citations

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

1995 • 94 citations

Some differences in the properties of carnitine palmitoyltransferase activities of the mitochondrial outer and inner membranes

1987 • 94 citations

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

1998 • 92 citations

Oxidation of Fatty Acids in Cultured Fibroblasts: a Model System for the Detection and Study of Defects in Oxidation

1982 • 91 citations

The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.

1992 • 89 citations

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys

1995 • 87 citations

Primary defect of juvenile visceral steatosis (jvs) mouse with systemic carnitine deficiency is probably in renal carnitine transport system

1994 • 85 citations

Fine Chromosome Mapping of the Genes for Human Liver and Muscle Carnitine Palmitoyltransferase I (CPT1A and CPT1B)

1997 • 84 citations

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.

1996 • 82 citations

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death

1997 • 74 citations

Carnitine Uptake Defect: Frameshift Mutations in the Human Plasmalemmal Carnitine Transporter Gene

1998 • 63 citations

Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I¹

1997 • 63 citations

Sudden neonatal death in carnitine transporter deficiency

1997 • 61 citations

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

1994 • 61 citations

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

1998 • 59 citations

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.

1997 • 54 citations

Evidence for Linkage of Human Primary Systemic Carnitine Deficiency with D5S436: A Novel Gene Locus on Chromosome 5q

1998 • 54 citations

Rapid Diagnosis of Long Chain and Medium Chain Fatty Acid Oxidation Disorders Using Lymphocytes

1995 • 50 citations

A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype

1998 • 50 citations

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase‐1 deficiency

1991 • 48 citations

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts

1989 • 47 citations

Rate-Dependent Distal Renal Tubular Acidosis and Carnitine Palmitoyltransferase I Deficiency

1994 • 42 citations

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

1997 • 41 citations

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase

1995 • 41 citations

Assignment of the carnitine/acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization

1997 • 40 citations

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

1996 • 39 citations

Carnitine‐acylcarnitine translocase deficiency ‐ a mild phenotype

1997 • 37 citations

Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient

1998 • 36 citations

A patient with lethal cardiomyopathy and a carnitine — acylcarnitine translocase deficiency

1995 • 32 citations

Identification of the molecular defect in a severe case of carnitine‐acylcarnitine carrier deficiency

1999 • 24 citations

First prenatal diagnosis of the carnitine transporter defect

1996 • 24 citations

Retrospective diagnosis of carnitine‐acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents

1996 • 23 citations

Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency

1998 • 22 citations

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset

1995 • 13 citations

Complementation Analysis of Carnitine Palmitoyltransferase I and II Defects

1996 • 10 citations

Untitled

1994 • 5 citations