(Q44178939)

English

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

scientific article published in October 2002

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scholarly article

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Europe PubMed Central

30 November 2017

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region (English)

1 reference

Europe PubMed Central

30 November 2017

author name string

Etsuo Naito

1

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Europe PubMed Central

30 November 2017

Michinori Ito

2

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Europe PubMed Central

30 November 2017

Ichiro Yokota

3

1 reference

Europe PubMed Central

30 November 2017

Takahiko Saijo

4

1 reference

Europe PubMed Central

30 November 2017

Junko Matsuda

5

1 reference

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30 November 2017

Yukiko Ogawa

6

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Europe PubMed Central

30 November 2017

Seiko Kitamura

7

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30 November 2017

Eiko Takada

8

1 reference

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30 November 2017

Yoshihiro Horii

9

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30 November 2017

Yasuhiro Kuroda

10

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30 November 2017

language of work or name

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publication date

1 October 2002

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30 November 2017

Biochimica et Biophysica Acta

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30 November 2017

1588

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30 November 2017

1

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30 November 2017

79-84

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30 November 2017

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

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

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

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

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

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The relationships between transketolase, yeast pyruvate decarboxylase and pyruvate dehydrogenase of the pyruvate dehydrogenase complex.

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

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

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

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Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient

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Differential effects of two mutations at arginine-234 in the alpha subunit of human pyruvate dehydrogenase

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Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit

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

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

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Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes

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Nucleotide and deduced amino acid sequence of the alpha subunit of yeast pyruvate dehydrogenase

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

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Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS)

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Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit

1 reference

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7 January 2021

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Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit

1 reference

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Identifiers

10.1016/S0925-4439(02)00142-4

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

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