Natural history of Barth syndrome: a national cohort study of 22 patients (Q34651626)

3 August 2017

title

Natural history of Barth syndrome: a national cohort study of 22 patients (English)

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3 August 2017

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Chris Ottolenghi

5

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Philippe Charron

object named as

Philippe Charron

17

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Marlene Rio

object named as

Marlene Rio

18

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Jean Donadieu

20

object named as

Jean Donadieu

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3 August 2017

4

Blandine Beaupain

1 reference

3 August 2017

Charlotte Rigaud

1

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3 August 2017

Anne-Sophie Lebre

2

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3 August 2017

Renaud Touraine

3

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3 August 2017

Allel Chabli

6

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3 August 2017

Helene Ansquer

7

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3 August 2017

Hulya Ozsahin

8

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3 August 2017

Sylvie Di Filippo

9

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3 August 2017

Pascale De Lonlay

10

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3 August 2017

Betina Borm

11

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3 August 2017

Francois Rivier

12

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3 August 2017

Marie-Catherine Vaillant

13

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3 August 2017

Michèle Mathieu-Dramard

14

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3 August 2017

Alice Goldenberg

15

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3 August 2017

Géraldine Viot

16

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3 August 2017

Damien Bonnet

19

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3 August 2017

publication date

8 May 2013

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Orphanet Journal of Rare Diseases

3 August 2017

published in

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3 August 2017

volume

8

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3 August 2017

page(s)

70

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https://scigraph.springernature.com/pub.10.1186/1750-1172-8-70

3 August 2017

exact match

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Substrate metabolism during basal and hyperinsulinemic conditions in adolescents and young-adults with Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Barth syndrome in a female patient

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

7 July 2018

Eponym: Barth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Congenital neutropenia: diagnosis, molecular bases and patient management

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Dysmorphology of Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

New indications and controversies in arginine therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Cardiac and clinical phenotype in Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Cardiolipin metabolism and Barth Syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

X chromosome inactivation in carriers of Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Mutation characterization and genotype-phenotype correlation in Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Heart transplantation for Barth syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

M-mode echocardiography in normal children and adolescents: some new perspectives.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study

7 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

Barth syndrome: clinical observations and genetic linkage studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-70

Gross motor development of a toddler with barth syndrome, an x-linked recessive disorder: a case report.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

Barth syndrome without 3-methylglutaconic aciduria.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3656783

The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study

26 October 2018

1 reference

12 December 2020

Impaired cardiac reserve and severely diminished skeletal muscle O₂ utilization mediate exercise intolerance in Barth syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation

1 reference

12 December 2020

Barth syndrome in adulthood: a clinical case

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-8-70

1 reference

Dimensions Publication ID

3 August 2017

0 references

1 reference

3 August 2017

1 reference