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


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

JOURNAL OF PEDIATRIC RESEARCH, vol.3, no.2, pp.82-85, 2016 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 3 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.4274/jpr.47450
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.82-85

Abstract

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.