(Q33688360)

28 July 2017

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title

Defects in activation and transport of fatty acids (English)

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28 July 2017

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Brivet M

1

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28 July 2017

Boutron A

2

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28 July 2017

Slama A

3

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28 July 2017

Costa C

4

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28 July 2017

Thuillier L

5

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28 July 2017

Demaugre F

6

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28 July 2017

Rabier D

7

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28 July 2017

Saudubray JM

8

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28 July 2017

Bonnefont JP

9

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28 July 2017

language of work or name

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1 June 1999

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Journal of Inherited Metabolic Disease

28 July 2017

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28 July 2017

22

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28 July 2017

428-441

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28 July 2017

4

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https://scigraph.springernature.com/pub.10.1023/a:1005552106301

28 July 2017

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cites work

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

1 reference

12 December 2020

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q

1 reference

12 December 2020

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

1 reference

12 December 2020

Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes

1 reference

12 December 2020

Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

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12 December 2020

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

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12 December 2020

Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1?

1 reference

12 December 2020

Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome

1 reference

12 December 2020

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

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12 December 2020

Sudden neonatal death in carnitine transporter deficiency.

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12 December 2020

Complementation analysis of carnitine palmitoyltransferase I and II defects

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12 December 2020

Evidence for intermediate channeling in mitochondrial beta-oxidation

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12 December 2020

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

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12 December 2020

Carnitine-acylcarnitine translocase deficiency--a mild phenotype

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12 December 2020

First prenatal diagnosis of the carnitine transporter defect

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12 December 2020

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

1 reference

12 December 2020

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression

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12 December 2020

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12 December 2020

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

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12 December 2020

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

1 reference

12 December 2020

Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32

1 reference

12 December 2020

Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

1 reference

12 December 2020

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Molecular characterization of inherited carnitine palmitoyltransferase II deficiency

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12 December 2020

Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes

1 reference

12 December 2020

Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II

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12 December 2020

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

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12 December 2020

The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane

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12 December 2020

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

1 reference

12 December 2020

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

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12 December 2020

Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency

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12 December 2020

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

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12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1023/A:1005552106301

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Dimensions Publication ID

28 July 2017

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