Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human (Q34742947)

4 August 2017

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title

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human (English)

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4 August 2017

2

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5

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author name string

P Rustin

1

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4 August 2017

B Parfait

3

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4 August 2017

D Chretien

4

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A Rötig

6

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4 August 2017

language of work or name

English

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publication date

1 August 1997

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Biochimica et Biophysica Acta

4 August 2017

published in

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4 August 2017

volume

1361

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4 August 2017

issue

2

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4 August 2017

page(s)

185-197

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Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.

4 August 2017

cites work

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7 January 2021

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

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7 January 2021

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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7 January 2021

Thyroid hormone action on mitochondrial energy transfer

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7 January 2021

Coordinate development of oxidative enzymes and Na-K-ATPase in thick ascending limb: role of corticosteroids

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7 January 2021

A familial progressive neurodegenerative disease with 2-oxoglutaric aciduria

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7 January 2021

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis

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7 January 2021

2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new case

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7 January 2021

Kearns-Sayre syndrome and complex II deficiency

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7 January 2021

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

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https://api.crossref.org/works/10.1016%2FS0925-4439%2897%2900035-5

7 January 2021

The investigation of respiratory chain disorders in heart using endomyocardial biopsies

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7 January 2021

Sarcoid myopathy and mitochondrial respiratory chain defects: clinicopathological, biochemical and molecular biological analyses

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7 January 2021

Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain

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7 January 2021

Fumarase deficiency: a new cause of mitochondrial encephalomyopathy

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7 January 2021

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

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7 January 2021

Variability of clinical presentation in fumarate hydratase deficiency

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7 January 2021

A fourth case of fumarase deficiency

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7 January 2021

Congenital fumarase deficiency presenting with hypotonia and areflexia.

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7 January 2021

Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase

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7 January 2021

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

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7 January 2021

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

1 reference

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7 January 2021

10.1016/S0925-4439(97)00035-5

Identifiers

DOI

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4 August 2017

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