Skeletal Manifestations in Gaucher Disease: A Case Report

• Auteurs principaux: Altınay Göksel Karatepe (Auteur), Rezzan Günaydın (Auteur), Taciser Kaya (Auteur), Nesrin Şen (Auteur), Gülriz Özbek (Auteur), Özgür Sipahi Esen (Auteur)
• Format: Livre
• Publié: Galenos Yayinevi, 2005-09-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of centr...