Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

by Keogh Steven J, McKee Shane, Smithson Sarah F, Grier David, Steward Colin G
Published 2012-05-01

Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissio...

by Dabner, Lucy, Pieles, Guido E, Steward, Colin G, Hamilton-Shield, Julian P, Ness, Andrew R, Rogers, Chris A, Bucciarelli-Ducci, Chiara, Greenwood, Rosemary, Ellis, Lucy, Sheehan, Karen, Reeves, Barnaby C
Published 2021-05-01

Barth syndrome

by 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
Published 2013-02-01