(Q34662310)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17694548%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

title

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy (English)

1 reference

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3 January 2020

1 reference

Nicola Brunetti-Pierri

2

1 reference

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3 January 2020

Nada Yazigi

4

1 reference

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3 January 2020

Darius J. Adams

15

1 reference

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3 January 2020

5

Kevin E Bove

1 reference

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3 January 2020

author name string

Lee-Jun C Wong

1

1 reference

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3 January 2020

Qing Zhang

3

1 reference

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3 January 2020

Beverly B Dahms

6

1 reference

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3 January 2020

Michelle A Puchowicz

7

1 reference

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3 January 2020

Ignacio Gonzalez-Gomez

8

1 reference

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3 January 2020

Eric S Schmitt

9

1 reference

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3 January 2020

Cavatina K Truong

10

1 reference

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3 January 2020

Charles L Hoppel

11

1 reference

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3 January 2020

Ping-Chieh Chou

12

1 reference

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3 January 2020

Jing Wang

13

1 reference

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3 January 2020

Erin E Baldwin

14

1 reference

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3 January 2020

Nancy Leslie

16

1 reference

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3 January 2020

Richard G Boles

17

1 reference

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3 January 2020

Douglas S Kerr

18

1 reference

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3 January 2020

William J Craigen

19

1 reference

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3 January 2020

language of work or name

English

0 references

publication date

1 October 2007

1 reference

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3 January 2020

1 reference

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3 January 2020

volume

46

1 reference

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3 January 2020

issue

4

1 reference

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3 January 2020

page(s)

1218-1227

1 reference

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Clinical manifestations of mitochondrial DNA depletion

3 January 2020

cites work

1 reference

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

21 January 2018

1 reference

21 January 2018

Mitochondrial medicine

1 reference

7 January 2021

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

1 reference

7 January 2021

Liver disease in Navajo neuropathy

1 reference

7 January 2021

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

1 reference

7 January 2021

Neuropathy in Navajo children: clinical and epidemiologic features

1 reference

7 January 2021

Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

1 reference

7 January 2021

Oxidative phosphorylation analysis: assessing the integrated functional activity of human skeletal muscle mitochondria--case studies

1 reference

7 January 2021

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

1 reference

7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

7 January 2021

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

1 reference

7 January 2021

The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies

1 reference

7 January 2021

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

1 reference

7 January 2021

Fatal neonatal liver failure and mitochondrial cytopathy (oxidative phosphorylation deficiency): A light and electron microscopic study of the liver

1 reference

7 January 2021

The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species

1 reference

7 January 2021

Inner ear defect similar to Alport's syndrome in the glomerulosclerosis mouse model Mpv17

1 reference

7 January 2021

Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase

1 reference

7 January 2021

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

1 reference

7 January 2021