(Q35249958)

7 August 2017

Mutation characterization and genotype-phenotype correlation in Barth syndrome (English)

1 reference

genotype-phenotype correlation

7 August 2017

1 reference

1 reference

J Johnston

1

1 reference

7 August 2017

R I Kelley

2

1 reference

7 August 2017

A Feigenbaum

3

1 reference

7 August 2017

G F Cox

4

1 reference

7 August 2017

G S Iyer

5

1 reference

7 August 2017

V L Funanage

6

1 reference

7 August 2017

R Proujansky

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 November 1997

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

61

1 reference

7 August 2017

1053-1058

1 reference

7 August 2017

5

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

Endocardial fibroelastosis: possible X linked inheritance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

Barth syndrome: clinical observations and genetic linkage studies.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716030

An X-linked recessive cardiomyopathy with abnormal mitochondria

26 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria

1 reference

12 December 2020

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/301604

1 reference

7 August 2017

1 reference

7 August 2017

1 reference