(Q30584522)

11 August 2017

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency (English)

1 reference

11 August 2017

Shane C Quinonez

1

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Donna M. Martin

object named as

Donna M Martin

3

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author name string

Steven M Leber

2

1 reference

11 August 2017

Jess G Thoene

4

1 reference

11 August 2017

Jirair K Bedoyan

5

1 reference

11 August 2017

1 January 2013

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11 August 2017

1 reference

11 August 2017

48

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11 August 2017

1

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11 August 2017

67-72

1 reference

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Lipoamide dehydrogenase deficiency: a newly discovered cause of acute hepatitis in adults.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4535688

Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency

26 November 2018

1 reference

12 December 2020

Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate

1 reference

12 December 2020

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency

1 reference

12 December 2020

Deficiency of dihydrolipoamide dehydrogenase due to two mutant alleles (E340K and G101del). Analysis of a family and prenatal testing

1 reference

12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

12 December 2020

Lipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface Domain

1 reference

12 December 2020

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

1 reference

12 December 2020

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

1 reference

12 December 2020

10.1016/J.PEDIATRNEUROL.2012.09.013

Identifiers

DOI

1 reference

release_ibemwmf62rh27dwi3f26usazty

11 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ibemwmf62rh27dwi3f26usazty

24 November 2022

mapped directly with Wikidata item

1 reference

11 August 2017

PubMed publication ID

23290025

1 reference