Pathophysiology of fatty acid oxidation disorders (Q37786229)

23 August 2017

Pathophysiology of fatty acid oxidation disorders (English)

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23 August 2017

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M J Bennett

1

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23 August 2017

10 October 2009

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Journal of Inherited Metabolic Disease

23 August 2017

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23 August 2017

33

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23 August 2017

5

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23 August 2017

533-537

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9170-y

23 August 2017

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cites work

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9170-Y

Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-010-9170-Y

The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis

21 January 2018

1 reference

12 December 2020

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

1 reference

12 December 2020

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

1 reference

12 December 2020

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

1 reference

12 December 2020

A novel brain-expressed protein related to carnitine palmitoyltransferase I

1 reference

12 December 2020

3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.

1 reference

12 December 2020

Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice

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12 December 2020

Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

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12 December 2020

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

1 reference

12 December 2020

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

1 reference

12 December 2020

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women

1 reference

12 December 2020

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

1 reference

12 December 2020

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

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12 December 2020

Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase

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12 December 2020

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

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12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

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12 December 2020

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

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12 December 2020

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

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12 December 2020

Short-chain acyl-coenzyme A dehydrogenase deficiency

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12 December 2020

Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency

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12 December 2020

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

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12 December 2020

Fatty acid oxidation disorders

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12 December 2020

Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation

1 reference

12 December 2020

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

1 reference

12 December 2020

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

1 reference

12 December 2020

Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency

1 reference

12 December 2020

10.1007/S10545-010-9170-Y

Identifiers

DOI

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23 August 2017

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PubMed ID

20824345