Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA). Patients have TAZ gene mutations which affect metabolism of cardiolipin, resulting in low tetralinoleoyl cardiolipin (CL(4)), an increase...

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Vydáno v:J Inherit Metab Dis
Hlavní autoři: Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2014
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4341014/
https://ncbi.nlm.nih.gov/pubmed/25112388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9747-y
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