Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

• Glavni autori: Pelin Teke Kısa (Autor), Engin Köse (Autor), Merve Ateşoğlu (Autor), Nur Arslan (Autor)
• Format: Knjiga
• Izdano: Galenos Yayinevi, 2017-06-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Aim: Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of spesific lysosomal enzymes required to break down glycosaminoglycans. MPSs should be suspected in a child with coarse facial features, organomegaly, and bone disease (dysostosis multiplex), with...