Family case of Schwachman-Diamond syndrome

Family case of Schwachman-Diamond syndrome

Schwachman-Diamond syndrome is a disease characterized by exocrine pancreatic insufficiency, hematological disorders, growth retardation and bone abnormalities. The disease is caused by mutations in the SBDS gene. Early diagnosis and timely start of comprehensive treatment, including clinical nutrit...

Full description

Bibliographic Details
Main Authors: M. G. Ipatova, N. A. Finogenova, Yu. G. Mukhina, P. V. Shumilov, A. I. Chubarova
Format: Article
Language:English
Published: Paediatrician Publishers, LLC 2016-06-01
Series:Pediatričeskaâ Farmakologiâ
Subjects:
schwachman-diamond syndrome
exocrine insufficiency
pancreas
hematological disorders
bone abnormalities
diagnosis
treatment
children
Online Access:https://www.pedpharma.ru/jour/article/view/1402

Internet

https://www.pedpharma.ru/jour/article/view/1402

Similar Items