(Q44199170)

30 November 2017

title

A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome (English)

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30 November 2017

M H Odièvre

1

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30 November 2017

A Lombès

2

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30 November 2017

P Dessemme

3

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30 November 2017

R Santer

4

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30 November 2017

M Brivet

5

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30 November 2017

B Chevallier

6

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30 November 2017

B Lagardère

7

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30 November 2017

M Odièvre

8

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30 November 2017

publication date

1 September 2002

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Journal of Inherited Metabolic Disease

30 November 2017

published in

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30 November 2017

volume

25

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30 November 2017

issue

5

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30 November 2017

page(s)

379-384

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Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

30 November 2017

cites work

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12 December 2020

Mitochondrial activity in Pompe's disease

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12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

12 December 2020

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

1 reference

12 December 2020

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

1 reference

12 December 2020

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

1 reference

12 December 2020

Glucose transporters: structure, function and consequences of deficiency

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12 December 2020

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

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12 December 2020

Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome

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12 December 2020

Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease

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12 December 2020

Fanconi-Bickel syndrome

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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12 December 2020

Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.

1 reference

12 December 2020

Hepato-renal glycogenosis with complex tubulopathy. 2. Cases of a new entity

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12 December 2020

Secondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation

1 reference

12 December 2020

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

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12 December 2020

Facilitative glucose transporters

1 reference

12 December 2020

[GLYCOGENOSIS OF THE LIVER WITH AMINOACIDURIA AND GLYCOSURIA. CLINICAL AND BIOCHEMICAL STUDIES]

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12 December 2020

Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acidβ-oxidation intermediates on mitochondrial oxidative phosphorylation

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12 December 2020

Identifiers

DOI

10.1023/A:1020147716990

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Dimensions Publication ID

30 November 2017

1015986074

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