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Barth syndrome: A life-threatening disorder caused by abnormal cardiolipin remodeling

Barth syndrome (BTHS) is a rare X-linked genetic disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and organic aciduria. The presence and severity of clinical manifestations are highly variable in BTHS, even among patients with identical gene mutations. Currently, less than 2...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Rare Dis Res Treat
Prif Awduron: Raja, Vaishnavi, Reynolds, Christian A., Greenberg, Miriam L.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2017
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6482962/
https://ncbi.nlm.nih.gov/pubmed/31032491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.29245/2572-9411/2017/2.1087
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