Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency (Q36380448)

13 August 2017

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency (English)

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13 August 2017

Simon Edvardson

2

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Ann Saada

object named as

Ann Saada

5

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author name string

Andreas Ohlenbusch

1

1 reference

13 August 2017

Johannes Skorpen

3

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13 August 2017

Alf Bjornstad

4

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13 August 2017

Orly Elpeleg

6

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13 August 2017

Jutta Gärtner

7

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13 August 2017

Knut Brockmann

8

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13 August 2017

20 September 2012

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Orphanet Journal of Rare Diseases

13 August 2017

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13 August 2017

7

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13 August 2017

69

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https://scigraph.springernature.com/pub.10.1186/1750-1172-7-69

13 August 2017

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cites work

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

SDHA is a tumor suppressor gene causing paraganglioma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

Succinate dehydrogenase - Assembly, regulation and role in human disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

Inborn errors of complex II--unusual human mitochondrial diseases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3492161

Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency

30 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-69

Effects of riboflavin in children with complex II deficiency.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-69

Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22995659

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-7-69

1 reference

Dimensions Publication ID

13 August 2017

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1 reference

13 August 2017

1 reference