New targets for monitoring and therapy in Barth syndrome | Zendy

William Thompson | Zendy; Brittany DeCroes | Zendy; Rebecca McClellan | Zendy; Jessica Rubens | Zendy; Frédéric M. Vaz | Zendy; Kara Kristaponis | Zendy; Dimitrios Avramopoulos | Zendy; Hilary J. Ver | Zendy

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New targets for monitoring and therapy in Barth syndrome

Author(s) -

William Thompson,

Brittany DeCroes,

Rebecca McClellan,

Jessica Rubens,

Frédéric M. Vaz,

Kara Kristaponis,

Dimitrios Avramopoulos,

Hilary J. Ver

Publication year - 2016

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.204

Subject(s) - cardiolipin , medicine , multivariate analysis , genotype , clinical phenotype , phenotype , disease , bioinformatics , cardiology , genetics , biology , gene , phospholipid , membrane

Barth syndrome (BTHS), an X-linked disorder caused by defects in TAZ, is the only known single-gene disorder of cardiolipin remodeling. We hypothesized that through analysis of affected individuals, we would gain a better understanding of the range of clinical features and identify targets for monitoring and therapy.

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