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Barth syndrome: mechanisms and management
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 concerning the etiolog...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558240/ https://www.ncbi.nlm.nih.gov/pubmed/31239752 http://dx.doi.org/10.2147/TACG.S171481 |