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

• मुख्य लेखकों: Nato D. Vashakmadze (लेखक), Natalia V. Zhurkova (लेखक), Ludmila K. Mikhaylova (लेखक), Volha Ya. Smirnova (लेखक), Grigorii V. Revunenkov (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: "Paediatrician" Publishers LLC, 2023-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...