(Q70953393)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8582406%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain (English)

1 reference

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15 October 2019

author name string

U Wendel

1

1 reference

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15 October 2019

W Ruitenbeek

2

1 reference

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15 October 2019

H A Bentlage

3

1 reference

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15 October 2019

R C Sengers

4

1 reference

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15 October 2019

J M Trijbels

5

1 reference

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15 October 2019

publication date

1 November 1995

1 reference

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European Journal of Pediatrics

15 October 2019

published in

1 reference

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15 October 2019

volume

154

1 reference

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15 October 2019

issue

11

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15 October 2019

page(s)

915-918

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01957505

15 October 2019

exact match

0 references

cites work

Defects in the cytochrome bc1 complex in mitochondrial diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome

1 reference

12 December 2020

Clinical aspects of mitochondrial disorders

1 reference

12 December 2020

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

1 reference

12 December 2020

Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain

1 reference

12 December 2020

Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion

1 reference

12 December 2020

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

12 December 2020

Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA

1 reference

12 December 2020

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

1 reference

12 December 2020

Organic aciduria in Pearson syndrome

1 reference

12 December 2020

Enzymological versus DNA investigations in mitochondrial (encephalo-) myopathies

1 reference

12 December 2020

Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies

1 reference

12 December 2020

Cytochrome c oxidase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01957505

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8582406%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference