DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia (Q70994516)

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15 October 2019

title

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

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15 October 2019

author name string

J Matsuda

1

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15 October 2019

M Ito

2

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15 October 2019

E Naito

3

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15 October 2019

I Yokota

4

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Y Kuroda

5

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publication date

1 January 1995

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Journal of Inherited Metabolic Disease

15 October 2019

published in

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volume

18

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issue

5

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page(s)

534-546

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X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation

15 October 2019

cites work

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency restricted to brain.

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12 December 2020

1 reference

12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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12 December 2020

Regulation of mammalian pyruvate dehydrogenase complex by a phosphorylation-dephosphorylation cycle

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12 December 2020

Pyruvate dehydrogenase E1 alpha deficiency

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12 December 2020

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

1 reference

12 December 2020

Modification of enzymatically amplified DNA for the detection of point mutations.

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12 December 2020

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

1 reference

12 December 2020

A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection

1 reference

12 December 2020

The 2-oxo acid dehydrogenase complexes: recent advances

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit

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12 December 2020

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells

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12 December 2020

Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis

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12 December 2020

Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis

1 reference

12 December 2020

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients

1 reference

12 December 2020

"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle

1 reference

12 December 2020

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

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12 December 2020

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

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12 December 2020

X chromosome inactivation and the diagnosis of X linked disease in females

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12 December 2020

Identifiers

DOI

10.1007/BF02435998

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15 October 2019

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