Clinical and molecular characterization of an extended family with Fabry disease.

Autor: Wattanasirichaigoon D; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand. radwc@mahidol.ac.th, Svasti J, Cairns JR, Tangnararatchakit K, Visudtibhan A, Keeratichamroen S, Ngiwsara L, Khowsathit P, Onkoksoong T, Lekskul A, Mongkolsiri D, Jariengprasert C, Thawil C, Ruencharoen S

Publikováno v: Journal of the Medical Association of Thailand = Chotmaihet thangphaet [J Med Assoc Thai] 2006 Sep; Vol. 89 (9), pp. 1528-35.

Fabry disease.

Autor: Germain, Dominique P.^1,2 dominique.germain@rpc.aphp.fr

Publikováno v: Orphanet Journal of Rare Diseases. 2010, Vol. 5, p30-78. 49p.