(Q49098022)

18 February 2018

title

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects. (English)

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2

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author name string

Boel de Paepe

1

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18 February 2018

Jules G Leroy

3

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Sara Seneca

4

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18 February 2018

Edith George

5

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18 February 2018

Dirk Matthys

6

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18 February 2018

Lionel van Maldergem

7

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18 February 2018

Emmanuel Scalais

8

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18 February 2018

Willy Lissens

9

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18 February 2018

Linda de Meirleir

10

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18 February 2018

Ann Meulemans

11

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18 February 2018

Rudy van Coster

12

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18 February 2018

language of work or name

English

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publication date

2 December 2005

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18 February 2018

published in

Pediatric Research

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18 February 2018

volume

59

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issue

1

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18 February 2018

page(s)

2-6

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18 February 2018

https://scigraph.springernature.com/pub.10.1203/01.pdr.0000191294.34122.ab

exact match

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cites work

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

21 January 2018

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

21 January 2018

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

21 January 2018

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A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60.

21 January 2018

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Mitochondrial disorders: clinical presentation and diagnostic dilemmas

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000191294.34122.AB

Cytochrome c oxidase deficiency in Leigh syndrome.

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000191294.34122.AB

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000191294.34122.AB

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II

21 January 2018

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Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency

21 January 2018

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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 January 2018

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https://api.crossref.org/works/10.1203%2F01.PDR.0000191294.34122.AB

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

21 January 2018

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An immunocytochemical approach to detection of mitochondrial disorders

21 January 2018

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The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

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Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

21 January 2018

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10.1203/01.PDR.0000191294.34122.AB

21 January 2018

Identifiers

DOI

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18 February 2018

Dimensions Publication ID

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18 February 2018