(Q44090549)

29 November 2017

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

1 reference

29 November 2017

Etsuo Naito

1

1 reference

29 November 2017

Michinori Ito

2

1 reference

29 November 2017

Ichiro Yokota

3

1 reference

29 November 2017

Takahiko Saijo

4

1 reference

29 November 2017

Yukiko Ogawa

5

1 reference

29 November 2017

Yasuhiro Kuroda

6

1 reference

29 November 2017

language of work or name

1 reference

1 September 2002

1 reference

Journal of the Neurological Sciences

29 November 2017

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

29 November 2017

201

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29 November 2017

1-2

1 reference

29 November 2017

33-37

1 reference

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

29 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Pharmacokinetics of thiamin after oral administration of thiamin tetrahydrofurfuryl disulfide to humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Abnormal Pyruvate and α-Ketoglutarate Dehydrogenase Complexes in a Patient with Lactic Acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Induction of the branched-chain 2-oxo acid dehydrogenase complex in 3T3-L1 adipocytes during differentiation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Novel separation and amino acid sequences of alpha and beta subunits of pig heart pyruvate dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

The alpha-ketoacid dehydrogenase complexes. Sequence similarity of rat pyruvate dehydrogenase with Escherichia coli and Azotobacter vinelandii alpha-ketoglutarate dehydrogenase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900187-9

10.1016/S0022-510X(02)00187-9

7 January 2021

Identifiers

DOI

1 reference

29 November 2017

1 reference