Possible diagnostic markers for Mucopolysaccharidoses; Cathepsin-D, Galectin-3 and Chitotriosidase


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Ergun P., Kagnıcı M., Ucar S. , Coker M. , Akcay Y. D. , Sozmen E.

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, vol.7, no.2, pp.95-100, 2017 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.5222/buchd.2017.095
  • Title of Journal : IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Page Numbers: pp.95-100

Abstract

Objective: Mucopolysaccharidoses is a group of inherited lysosomal storage diseases that are manifested by various clinical signs and symptoms (skeletal dysplasia, coarse face, progressive psychomotor retardation, cardiac and lung involvement) due to the deposition of glycosaminoglycans in tissues. Recently it has been shown that the inflammatory response to glycosaminoglycan deposition in leucocytes in animal models of mucopolysaccaridoses has increased. Here, we aimed to investigate some inflammatory markers (galectin-3, cathepsin-D and chitotriosidase) as diagnostic markers in different types of mucopolysaccharidosis and in patients with Gaucher disease and Niemann Pick A/B disease.