(Q45917108)

17 December 2017

title

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. (English)

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17 December 2017

author name string

R Bachmann-Gagescu

series ordinal

1

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17 December 2017

J Lawrence Merritt

series ordinal

2

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17 December 2017

S H Hahn

series ordinal

3

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17 December 2017

publication date

29 July 2009

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17 December 2017

Journal of Inherited Metabolic Disease

published in

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17 December 2017

volume

32 Suppl 1

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17 December 2017

page(s)

b3075

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17 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-009-1101-4

exact match

0 references

cites work

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-009-1101-4

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

12 December 2020

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

1 reference

12 December 2020

10.1007/S10545-009-1101-4

Identifiers

DOI

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17 December 2017

Dimensions Publication ID

1032848502

0 references

1 reference

17 December 2017