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pro vyhledávání: '"Clarke Sarah LN"'
Autor:
Clarke, Sarah L. N., Parmesar, Kevon, Saleem, Moin A., Ramanan, Athimalaipet V., Clarke, Sarah Ln
Publikováno v:
Archives of Disease in Childhood; Mar2022, Vol. 107 Issue 3, p223-228, 6p
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 23 (2013)
Abstract 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 aci
Externí odkaz:
https://doaj.org/article/a5ebb2b09612441393752297ef4d9f1e