EVALUATION OF HEMATOLOGIC FINDINGS IN MUCOPOLYSACCHARIDOSIS CASES

Cakar N. E., Karaca M.

ACTA MEDICA MEDITERRANEA, cilt.36, sa.2, ss.797-800, 2020 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.19193/0393-6384_2020_2_123
  • Dergi Adı: ACTA MEDICA MEDITERRANEA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.797-800
  • Anahtar Kelimeler: Mucopolysaccharidosis, bone marrow involvement, hematological findings
  • İstanbul Üniversitesi Adresli: Evet

Özet

Introduction: Mucopolysaccharidosis (MPS) are lysosomal storage diseases characterized by chronic, progressive and multiple system involvement due to impaired glycosaminoglycans destruction. There are 7 types of MPS as type I, II, III, IV, VI, VII and IX. There is wide clinical heterogeneity, coarse face, cardiac involvement, deafness, bone dysplasia, corneal clouding, learning difficulties.