Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency (Q42279594)

19 October 2017

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

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short-chain acyl-coenzyme A dehydrogenase deficiency

19 October 2017

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author name string

Bhala A

1

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19 October 2017

Willi SM

2

1 reference

19 October 2017

Rinaldo P

3

1 reference

19 October 2017

Bennett MJ

4

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19 October 2017

Schmidt-Sommerfeld E

5

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19 October 2017

Hale DE

6

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19 October 2017

language of work or name

English

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publication date

1 June 1995

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The Journal of Pediatrics

19 October 2017

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19 October 2017

126

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19 October 2017

6

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19 October 2017

910-915

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Fatty acid oxidation disorders: A new class of metabolic diseases

19 October 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Prenatal Diagnosis and Neonatal Monitoring of a Fetus with Glutaric Aciduria Type II Due to Electron Transfer Flavoprotein (β-Subunit) Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Prenatal detection of defects in propionate metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Striatal degeneration in glutaric acidaemia type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Analysis of acylcarnitines in normal human urine with the radioisotopic exchange-high performance liquid chromatography (HPLC) method

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

New clinical phenotype of branched-chain acyl-CoA oxidation defect

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

7 January 2021

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

inferred from DOI database lookup

7 January 2021

based on heuristic

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

Short-Chain Acyl-Coenzyme A Dehydrogenase Activity, Antigen, and Biosynthesis Are Absent in the BALB/cByJ Mouse

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2895%2970207-5

10.1016/S0022-3476(95)70207-5

7 January 2021

Identifiers

DOI

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release_ctovv2c7hffvjdkihzocntmbxm

19 October 2017

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Fatcat

https://api.fatcat.wiki/v0/release/ctovv2c7hffvjdkihzocntmbxm

mapped directly with Wikidata item

24 November 2022

based on heuristic

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