(Q78254369)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

0 references

1 reference

title

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

author name string

P G Barth

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

R J Wanders

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

P Vreken

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

language of work or name

English

0 references

publication date

1 September 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Pediatrics

13 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

volume

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

page(s)

273-276

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome

13 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Barth syndrome: clinical observations and genetic linkage studies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

A novel X-linked gene, G4.5. is responsible for Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Mutation characterization and genotype-phenotype correlation in Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

X chromosome inactivation in carriers of Barth syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Barth syndrome may be due to an acyltransferase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

Heart transplantation for dilated cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2899%2970118-6

10.1016/S0022-3476(99)70118-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10484787%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

1 reference