Clinical Characteristics of a Patient with Mucopolysaccharidosis Type IVA (Morquio Syndrome)

• Main Authors: Nato D. Vashakmadze (Author), Natalia V. Zhurkova (Author), Ludmila K. Mikhaylova (Author), Volha Ya. Smirnova (Author), Grigorii V. Revunenkov (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mucopolysaccharidosis (MPS) type IVA (Morquio syndrome) is a hereditary lysosomal storage disease caused by deficiency of N-acetylglucosamine-6-sulfate sulfatase. This enzyme deficiency leads to specific glycosaminoglycans (keratan sulfate and chondroitin-6sulfate) accumulation mainly in the bone an...