Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth (Q24632525)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20812380%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20812380%20AND%20SRC:MED&resulttype=core&format=json

obstetrics and gynaecology

13 February 2020

main subject

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13 February 2020

Paul Brennan

13

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13 February 2020

author name string

R A Newbury-Ecob

2

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13 February 2020

R Hastings

3

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13 February 2020

S F Smithson

4

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13 February 2020

B Tsai-Goodman

5

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13 February 2020

O W Quarrell

6

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13 February 2020

W Kulik

7

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13 February 2020

R Wanders

8

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13 February 2020

M Pennock

9

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13 February 2020

M Williams

10

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13 February 2020

J L Cresswell

11

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13 February 2020

I L Gonzalez

12

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13 February 2020

language of work or name

English

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publication date

1 October 2010

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13 February 2020

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13 February 2020

volume

30

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13 February 2020

page(s)

970-976

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13 February 2020

issue

10

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Comparison of lymphoblast mitochondria from normal subjects and patients with Barth syndrome using electron microscopic tomography

13 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Barth syndrome: TAZ gene mutations, mRNAs, and evolution

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Dysmorphology of Barth syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Assays of cardiolipin levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Multiple transmissions of Barth syndrome through an oocyte donor with a de novo TAZ mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Cardiac and clinical phenotype in Barth syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Characterization of lymphoblast mitochondria from patients with Barth syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Barth syndrome without 3-methylglutaconic aciduria.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995309

Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction

28 November 2018

1 reference

12 December 2020

An X-linked recessive cardiomyopathy with abnormal mitochondria

1 reference

12 December 2020

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

1 reference

12 December 2020

Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

1 reference

12 December 2020

Identifiers

DOI

10.1002/PD.2599

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20812380%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20812380%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference