(Q41180858)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8884575%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

review article

1 reference

title

Clinical presentation of mitochondrial disorders in childhood (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8884575%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author

Valérie Cormier-Daire

4

1 reference

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20 October 2019

Jean-Paul Bonnefont

6

1 reference

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20 October 2019

author name string

A Munnich

1

1 reference

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20 October 2019

A Rötig

2

1 reference

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20 October 2019

D Chretien

3

1 reference

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20 October 2019

T Bourgeron

5

1 reference

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20 October 2019

J M Saudubray

7

1 reference

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20 October 2019

P Rustin

8

1 reference

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20 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8884575%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

20 October 2019

published in

1 reference

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20 October 2019

volume

19

1 reference

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20 October 2019

issue

4

1 reference

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20 October 2019

page(s)

521-527

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf01799112

20 October 2019

exact match

0 references

cites work

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia

1 reference

12 December 2020

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset

1 reference

12 December 2020

Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies

1 reference

12 December 2020

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency

1 reference

12 December 2020

Kidney involvement in mitochondrial disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

12 December 2020

Craniofacial anomalies and malformations in respiratory chain deficiency

1 reference

12 December 2020

Clinical presentations and laboratory investigations in respiratory chain deficiency

1 reference

12 December 2020

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

1 reference

12 December 2020

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

12 December 2020

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy

1 reference

12 December 2020

Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation

1 reference

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

Identifiers

DOI

10.1007/BF01799112

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8884575%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 October 2019

0 references

1 reference