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Barth syndrome: mechanisms and management

The Application of Clinical Genetics

Jun 5, 2019

Sinda Zarrouk-Mahjoub

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Abstract

Objectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the cardiolipin transacylase tafazzin. This review aimed to summarize and discuss recent and earlier findings concernin...read more

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Acids
Blood
Body Dysmorphic Disorders
Cardiolipins
Creatine Kinase
Fibroelastosis
Heart Failure
Neutropenia
Research
Urine
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Barth syndrome: mechanisms and management

The Application of Clinical Genetics

Jun 5, 2019

Sinda Zarrouk-Mahjoub

PMID: 31239752

DOI: 10.2147/tacg.s171481

Abstract

Objectives: Barth syndrome is an ultra-rare, infantile-onset, X-linked recessive mitochondrial disorder, primarily affecting males, due to variants in TAZ encoding for the cardiolipin transacylase tafazzin. This review aimed to summarize and discuss recent and earlier findings concernin...read more

Mentioned in this Paper

Acids
Blood
Body Dysmorphic Disorders
Cardiolipins
Creatine Kinase
Paper Details
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