(Q33875702)

29 July 2017

1 reference

title

Inborn errors of mitochondrial fatty acid oxidation (English)

1 reference

29 July 2017

0 references

Bennett MJ

1

1 reference

PubMed ID

10737439

29 July 2017

Rinaldo P

series ordinal

2

1 reference

PubMed ID

10737439

29 July 2017

Strauss AW

series ordinal

3

1 reference

29 July 2017

1 February 2000

1 reference

Critical Reviews in Clinical Laboratory Sciences

29 July 2017

1 reference

29 July 2017

37

1 reference

29 July 2017

1

1 reference

29 July 2017

1-44

1 reference

Fatty acid oxidation disorders: A new class of metabolic diseases

29 July 2017

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Mammalian mitochondrial beta-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular mechanism of long-chain fatty acid uptake

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Expression cloning and characterization of a novel adipocyte long chain fatty acid transport protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Isolation and partial characterization of a fatty acid binding protein in rat liver plasma membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

A family of fatty acid transporters conserved from mycobacterium to man

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Malonyl-CoA and carnitine palmitoyltransferase I: an expanding partnership

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Immunoquantitative analysis of human carnitine palmitoyltransferase I and II defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular cloning of cDNAs encoding rat and human medium-chain acyl-CoA dehydrogenase and assignment of the gene to human chromosome 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: cloning and characterization of the coding sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat mitochondrial acetoacetyl-CoA thiolase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Cloning and expression of cDNA for a newly identified isozyme of bovine liver 3-hydroxyacyl-CoA dehydrogenase and its import into mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Neonatal presentations of mitochondrial metabolic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Sudden neonatal death in carnitine transporter deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Characterization of human and pig kidney long-chain-acyl-CoA dehydrogenases and their role in beta-oxidation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: a severe fatty acid oxidation disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Retinal dystrophy in long chain 3-hydroxy-acyl-coA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Combined enzyme defect of mitochondrial fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Heterozygosity for long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and deterioration in liver function in a newborn infant infected with human immunodeficiency virus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

The laboratory diagnosis of inborn errors of mitochondrial fatty acid oxidation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Analysis of carnitine esters by radio-high performance liquid chromatography in cultured skin fibroblasts from patients with mitochondrial fatty acid oxidation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360091174169

10.1080/10408360091174169

21 January 2018

Identifiers

DOI

1 reference

29 July 2017

1 reference

PubMed ID

10737439