Family case of Schwachman-Diamond syndrome

• Hauptverfasser: M. G. Ipatova (Verfasst von), N. A. Finogenova (Verfasst von), Yu. G. Mukhina (Verfasst von), P. V. Shumilov (Verfasst von), A. I. Chubarova (Verfasst von)
• Format: Buch
• Veröffentlicht: Union of pediatricians of Russia, 2016-06-01T00:00:00Z.
• Schlagworte: article
• Online-Zugang: Connect to this object online.

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...