Barth syndrome

First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay, neutropenia and increased urinary excretion of 3-methylglutaconic acid (3-MGCA). Fewer than 200 living males are known worldwide...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Clarke, Sarah LN, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
Gaiak:
Review
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3583704/
https://ncbi.nlm.nih.gov/pubmed/23398819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-23
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