(Q43989064)

28 November 2017

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion (English)

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28 November 2017

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P Hargreaves

1

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28 November 2017

S Rahman

2

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28 November 2017

P Guthrie

3

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28 November 2017

J W Taanman

4

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28 November 2017

J V Leonard

5

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28 November 2017

J M Land

6

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28 November 2017

S J R Heales

7

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28 November 2017

1 February 2002

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Journal of Inherited Metabolic Disease

28 November 2017

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28 November 2017

25

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28 November 2017

1

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28 November 2017

7-16

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describes a project that uses

28 November 2017

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https://scigraph.springernature.com/pub.10.1023/a:1015104910239

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cites work

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

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12 December 2020

Early-onset fatal encephalomyopathy associated with severe mtDNA depletion

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12 December 2020

Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion

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12 December 2020

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts

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12 December 2020

Functional mtDNA replication defect in a fibroblast line from a patient with mtDNA depletion

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12 December 2020

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome

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12 December 2020

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

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12 December 2020

Liver failure associated with mitochondrial DNA depletion

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12 December 2020

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

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12 December 2020

Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans

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12 December 2020

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement

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12 December 2020

Poor Storage and Handling of Tissue Mimics Mitochondrial DNA Depletion

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12 December 2020

Fatal infantile liver failure associated with mitochondrial DNA depletion

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12 December 2020

Molecular mechanisms in mitochondrial DNA depletion syndrome

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12 December 2020

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

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12 December 2020

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases

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12 December 2020

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

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12 December 2020

Neonatal presentation of coenzyme Q10 deficiency

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12 December 2020

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

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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

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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12 December 2020

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

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12 December 2020

Identifiers

DOI

10.1023/A:1015104910239

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Dimensions Publication ID

28 November 2017

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