(Q73254841)

English

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

scientific article published on 01 December 1999

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scholarly article

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2 November 2019

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex (English)

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2 November 2019

author name string

C Rouillac

1

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2 November 2019

B Aral

2

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2 November 2019

F Fouque

3

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2 November 2019

D Marchant

4

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2 November 2019

J M Saudubray

5

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2 November 2019

Y Dumez

6

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2 November 2019

G Lindsay

7

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2 November 2019

M Abitbol

8

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2 November 2019

J L Dufier

9

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2 November 2019

C Marsac

10

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2 November 2019

C Benelli

11

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2 November 2019

publication date

1 December 1999

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2 November 2019

Prenatal Diagnosis

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2 November 2019

19

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2 November 2019

12

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2 November 2019

1160-1164

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2 November 2019

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency

1 reference

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21 January 2018

Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Identification of sulfhydryl-modified cysteine residues in the ligand binding pocket of retinoic acid receptor beta

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Genetic defects in human pyruvate dehydrogenase

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Mapping of a congenital microcoria locus to 13q31-q32

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291097-0223%28199912%2919%3A12%3C1160%3A%3AAID-PD712%3E3.0.CO%3B2-2

21 January 2018

Identifiers

10.1002/(SICI)1097-0223(199912)19:12<1160::AID-PD712>3.0.CO;2-2

1 reference

Europe PubMed Central

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2 November 2019

1 reference

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2 November 2019

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