Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. (Q33372029)

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27 December 2019

title

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency (English)

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27 December 2019

1

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27 December 2019

Rita Horvath

3

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27 December 2019

Ulrike Koehl

9

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27 December 2019

author name string

Ralf Schubert

2

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27 December 2019

Jens Petersen

4

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27 December 2019

Nancy Fütterer

5

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27 December 2019

Elisabeth Malle

6

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27 December 2019

Andreas Stumpf

7

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27 December 2019

Boris R Gebhardt

8

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27 December 2019

Burkhart Schraven

10

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27 December 2019

Stefan Zielen

11

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27 December 2019

language of work or name

English

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publication date

20 July 2006

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27 December 2019

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27 December 2019

volume

60

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issue

3

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27 December 2019

page(s)

321-326

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000233252.60457.cf

27 December 2019

exact match

0 references

cites work

Mitochondrial disorders: prevalence, myths and advances.

1 reference

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Mitochondrial respiratory-chain diseases

21 January 2018

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Mitochondrial encephalomyopathies: an update

21 January 2018

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Disorders of nuclear-mitochondrial intergenomic signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Mutation analysis in 16 patients with mtDNA depletion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

21 January 2018

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Clinical spectrum and diagnosis of mitochondrial disorders

21 January 2018

1 reference

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A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

21 January 2018

1 reference

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Effects of of didanosine-related depletion of mtDNA in human T lymphocytes

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

IL-2 activated NK cell immunotherapy of three children after haploidentical stem cell transplantation

21 January 2018

1 reference

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Craniofacial anomalies and malformations in respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Antenatal manifestations of mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

Longitudinal survey of lymphocyte subpopulations in the first year of life.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000233252.60457.CF

10.1203/01.PDR.0000233252.60457.CF

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16857757%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

27 December 2019

1019872451

0 references

1 reference