Orthopedic Pathology in Children with Mucopolysaccharidosis Type I

• Main Authors: Nato D. Vashakmadze (Author), Leyla S. Namazova-Baranova (Author), Anait K. Gevorkian (Author), Ludmila M. Kuzenkova (Author), Tatiana V. Podkletnova (Author), Marina A. Babaykina (Author), Anatoly B. Anikin (Author), Galina B. Kuznetsova (Author), Liliya A. Osipova (Author), Konstantin V. Jerdev (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2016-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. T...