(Q41180899)

27 September 2017

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title

Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism (English)

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27 September 2017

W Ruitenbeek

1

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27 September 2017

U Wendel

series ordinal

2

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27 September 2017

B C Hamel

series ordinal

3

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27 September 2017

J M Trijbels

series ordinal

4

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27 September 2017

publication date

1 January 1996

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Journal of Inherited Metabolic Disease

27 September 2017

published in

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27 September 2017

volume

19

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27 September 2017

issue

4

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27 September 2017

page(s)

581-587

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The expanding clinical spectrum of mitochondrial diseases

27 September 2017

cites work

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12 December 2020

Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex

1 reference

12 December 2020

Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient

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12 December 2020

Pyruvate dehydrogenase deficiency

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12 December 2020

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency

1 reference

12 December 2020

First trimester prenatal diagnosis of Menkes disease by DNA analysis.

1 reference

12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

1 reference

12 December 2020

Leigh syndrome, a mitochondrial encephalo(myo)pathy. A review of the literature

1 reference

12 December 2020

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

12 December 2020

Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency

1 reference

12 December 2020

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

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12 December 2020

Regulation and function of the mitochondrial genome

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12 December 2020

Fatal infantile liver failure associated with mitochondrial DNA depletion

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12 December 2020

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes

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12 December 2020

Disorders of the electron transport chain

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12 December 2020

The use of chorionic villi in prenatal diagnosis of mitochondriopathies

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12 December 2020

Prenatal diagnosis of mitochondrial DNA8993 T----G disease

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12 December 2020

Mitochondrial encephalomyopathies: what next?

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12 December 2020

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

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12 December 2020

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

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12 December 2020

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

1 reference

12 December 2020

Prenatal diagnosis of cytochrome c oxidase deficiency by biopsy of chorionic villi

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799118

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Dimensions Publication ID

27 September 2017

1047441526

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