(Q40601891)

21 September 2017

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation (English)

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21 September 2017

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Gargus JJ

1

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21 September 2017

Boyle K

2

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21 September 2017

Bocian M

3

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21 September 2017

Roe DS

4

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21 September 2017

Vianey-Saban C

5

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21 September 2017

Roe CR

6

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21 September 2017

language of work or name

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1 January 2003

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Journal of Inherited Metabolic Disease

21 September 2017

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21 September 2017

26

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21 September 2017

7

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21 September 2017

659-670

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https://scigraph.springernature.com/pub.10.1023/b:boli.0000005659.52200.c1

21 September 2017

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cites work

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

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12 December 2020

Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency

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12 December 2020

Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts

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12 December 2020

Mitochondrial diseases in man and mouse

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12 December 2020

Reaction of electron-transfer flavoprotein ubiquinone oxidoreductase with the mitochondrial respiratory chain

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12 December 2020

Quantitative assay of free and total carnitine using tandem mass spectrometry

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12 December 2020

Redox control of beta-oxidation in rat liver mitochondria

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12 December 2020

Recent developments in the investigation of inherited metabolic disorders using cultured human cells

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12 December 2020

Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy

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12 December 2020

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

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12 December 2020

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

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12 December 2020

Preliminary evidence for the existence of specific functional assemblies between enzymes of the beta-oxidation pathway and the respiratory chain

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12 December 2020

Mitochondria1 encephalomyopathy with decreased succinate-cytochrome c reductase activity

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12 December 2020

Craniofacial anomalies and malformations in respiratory chain deficiency

1 reference

12 December 2020

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

1 reference

12 December 2020

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

1 reference

12 December 2020

Hair and Skin Disorders as Signs of Mitochondrial Disease

1 reference

12 December 2020

Defects in energy metabolism: coming of age, slowly

1 reference

12 December 2020

Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity

1 reference

12 December 2020

Secondary inhibition of multiple NAD-requiring dehydrogenases in respiratory chain complex I deficiency: possible metabolic markers for the primary defect

1 reference

12 December 2020

FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation

1 reference

12 December 2020

Fatty acid oxidation disorders

1 reference

12 December 2020

Intramitochondrial regulation of fatty acid beta-oxidation occurs between flavoprotein and ubiquinone. A role for changes in the matrix volume

1 reference

12 December 2020

Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

10.1023/B:BOLI.0000005659.52200.C1

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DOI

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Dimensions Publication ID

21 September 2017

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1 reference