Barth syndrome

Barth syndrome (BTHS) is an X-linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3-methylglutaconic acid (3-MGCA). There may be a wide variability of phenotypes amongst BTHS patients w...

Descripción completa

Detalles Bibliográficos
Autor principal: JEFFERIES, JOHN L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Online Library 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892174/
https://www.ncbi.nlm.nih.gov/pubmed/23843353
http://dx.doi.org/10.1002/ajmg.c.31372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892174/
https://www.ncbi.nlm.nih.gov/pubmed/23843353
http://dx.doi.org/10.1002/ajmg.c.31372

Ejemplares similares