(Q41717411)

English

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

scientific article published on February 2000

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scholarly article

1 reference

Europe PubMed Central

7 October 2017

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

1 reference

Europe PubMed Central

7 October 2017

long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

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author name string

Enns GM

1

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Europe PubMed Central

7 October 2017

Bennett MJ

2

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Europe PubMed Central

7 October 2017

Hoppel CL

3

1 reference

Europe PubMed Central

7 October 2017

Goodman SI

4

1 reference

Europe PubMed Central

7 October 2017

Weisiger K

5

1 reference

Europe PubMed Central

7 October 2017

Ohnstad C

6

1 reference

Europe PubMed Central

7 October 2017

Golabi M

7

1 reference

Europe PubMed Central

7 October 2017

Packman S

8

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Europe PubMed Central

7 October 2017

language of work or name

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publication date

1 February 2000

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Europe PubMed Central

7 October 2017

The Journal of Pediatrics

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Europe PubMed Central

7 October 2017

136

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Europe PubMed Central

7 October 2017

2

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7 October 2017

251-254

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Europe PubMed Central

7 October 2017

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Secondary 3-hydroxydicarboxylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Differential diagnosis of hydroxydicarboxylic aciduria based on release of3H2O from [9,10‐3H]myristic and [9,10‐3H]palmitic acids by intact cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Urinary 3-hydroxydicarboxylic acids in pathophysiology of metabolic disorders with dicarboxylic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2970111-9

7 January 2021

Identifiers

10.1016/S0022-3476(00)70111-9

1 reference

Europe PubMed Central

7 October 2017

1 reference

Europe PubMed Central

7 October 2017

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