Barth syndrome

<p>Abstract</p> <p>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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMC 2013-02-01
Col·lecció:Orphanet Journal of Rare Diseases
Matèries:
Barth syndrome
3-methylglutaconic aciduria
Dilated cardiomyopathy
Stillbirth
Growth delay
Endocardial fibroelastosis
Left ventricular non-compaction
Arrhythmia
Myopathy
Neutropenia
Accés en línia:http://www.ojrd.com/content/8/1/23
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars