(Q33461789)

27 July 2017

title

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects (English)

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27 July 2017

Joél Smet

12

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author name string

Frank Roels

1

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27 July 2017

Patrick Verloo

2

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27 July 2017

François Eyskens

3

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27 July 2017

Baudouin François

4

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27 July 2017

Sara Seneca

5

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27 July 2017

Boel De Paepe

6

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27 July 2017

Jean-Jacques Martin

7

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27 July 2017

Valerie Meersschaut

8

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27 July 2017

Marleen Praet

9

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27 July 2017

Emmanuel Scalais

10

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27 July 2017

Marc Espeel

11

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27 July 2017

Gert Van Goethem

13

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27 July 2017

Rudy Van Coster

14

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27 July 2017

publication date

5 June 2009

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27 July 2017

published in

BMC Clinical Pathology

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27 July 2017

volume

9

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27 July 2017

page(s)

4

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Creative Commons Attribution 2.0 Generic

27 July 2017

copyright license

start time

5 June 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

cites work

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Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion

14 July 2018

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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

14 July 2018

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Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

14 July 2018

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Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

14 July 2018

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Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

14 July 2018

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14 July 2018

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

14 July 2018

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14 July 2018

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14 July 2018

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14 July 2018

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Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

14 July 2018

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14 July 2018

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

14 July 2018

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14 July 2018

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Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome with deficiency of cytochrome-c-oxidase in cardiac and skeletal muscle. An enzymehistochemical--ultra-immunocytochemical--fine structural study in longterm frozen autopsy tissue.

14 July 2018

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14 July 2018

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

14 July 2018

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14 July 2018

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14 July 2018

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Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

14 July 2018

1 reference

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Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

14 July 2018

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Spectrum of myopathic findings in 50 patients with the 3243A>G mutation in mitochondrial DNA.

21 January 2018

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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

21 January 2018

1 reference

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

21 January 2018

1 reference

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Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

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POLG mutations in Alpers syndrome

21 January 2018

1 reference

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Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

21 January 2018

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Linezolid-induced inhibition of mitochondrial protein synthesis.

21 January 2018

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Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

21 January 2018

1 reference

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A mutation in mitochondrial DNA-encoded cytochrome c oxidase II gene in a child with Alpers-Huttenlocher-like disease

21 January 2018

1 reference

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Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

21 January 2018

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Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

21 January 2018

1 reference

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Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Reversion of mtDNA depletion in a patient with TK2 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Respiratory chain deficiency in Alpers syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1472-6890-9-4

Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle

21 January 2018

1 reference

12 December 2020

Homoplasmy, heteroplasmy, and mitochondrial dystonia

1 reference

12 December 2020

Letter: Cytochrome c and cytochrome oxidase in diaminobenzidine staining of mitochondria

1 reference

12 December 2020

POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

1 reference

12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

12 December 2020

Ultrastructural localization of cytochrome c in the oocyte of Artemia salina, by means of 3,3-diaminobenzidine at pH9

1 reference

12 December 2020

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study

1 reference

12 December 2020

Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)

1 reference

12 December 2020

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

1 reference

12 December 2020

POLG mutations and Alpers syndrome

1 reference

12 December 2020

Tissue distribution and disease manifestations of the tRNA(Lys) A-->G(8344) mitochondrial DNA mutation in a case of myoclonus epilepsy and ragged red fibres

1 reference

12 December 2020

Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres

1 reference

12 December 2020

Identifiers

DOI

10.1186/1472-6890-9-4

1 reference

Dimensions Publication ID

27 July 2017

0 references

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27 July 2017

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