Clinical Experiments in Patients with Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)


Creative Commons License

Er E. , CANDA E. , Ucar S. K. , Sozmen E. , ÇOKER M.

JOURNAL OF PEDIATRIC RESEARCH, cilt.3, ss.82-85, 2016 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 3 Konu: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/jpr.47450
  • Dergi Adı: JOURNAL OF PEDIATRIC RESEARCH
  • Sayfa Sayıları: ss.82-85

Özet

Aim: Mucopolysaccharidosis (MPS) type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity vary. We evaluated clinical, laboratory and follow-up findings of 11 patients diagnosed with MPS type VI between the years 1996-2016 by the Ege University Faculty of Medicine, Department of Pediatrics, Child Health and Disease, Division of Metabolism and Nutrition to raise awareness in clinicians.