Evaluation of Demographic and Clinical Characteristics of Patients with Mucopolysaccharidosis

TEKE KISA P., KÖSE E., ATEŞOĞLU M., ARSLAN N.

JOURNAL OF PEDIATRIC RESEARCH, cilt.4, sa.2, ss.59-62, 2017 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 4 Sayı: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.4274/jpr.15870
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.59-62
  • Anahtar Kelimeler: Mucopolysaccharidosis, pediatrics, consanguinity, enzyme replacement therapy, ENZYME-REPLACEMENT THERAPY, SANFILIPPO SYNDROME, NATURAL-HISTORY, PREVALENCE, DIAGNOSIS, RATES
  • Ankara Üniversitesi Adresli: Hayır

Özet

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 central nervous system abnormalities. Early diagnosis and treatment can improve outcomes in MPS. The aim of this study was to evaluate the demographic characteristics and clinical findings of our MPS patients.