(Q71345292)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): respiratory-chain abnormalities in cultured fibroblasts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference

P G Barth

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

C Van den Bogert

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

P A Bolhuis

3

1 reference

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18 October 2019

H R Scholte

4

1 reference

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18 October 2019

A H van Gennip

5

1 reference

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18 October 2019

R B Schutgens

6

1 reference

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18 October 2019

A G Ketel

7

1 reference

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18 October 2019

publication date

1 January 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

18 October 2019

published in

1 reference

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18 October 2019

volume

19

1 reference

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18 October 2019

issue

2

1 reference

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18 October 2019

page(s)

157-160

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

18 October 2019

cites work

1 reference

12 December 2020

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

1 reference

12 December 2020

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy

1 reference

12 December 2020

Tricine-sodium dodecyl sulfate-polyacrylamide gel electrophoresis for the separation of proteins in the range from 1 to 100 kDa

1 reference

12 December 2020

Multiple syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

1 reference

12 December 2020

Barth syndrome: clinical observations and genetic linkage studies

1 reference

12 December 2020

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

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/BF01799418

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8739954%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

1 reference