Browsing by Author "Meow Keong Thong"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
- PublicationClinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study(2019)
;Huey Yin Leong ;Nor Azimah Abdul Azize ;Hui Bein Chew ;Wee Teik Keng ;Meow Keong Thong ;Mohd Khairul Nizam Mohd Khalid ;Liang Choo Hung ;Norzila Mohamed Zainudin ;Azura Ramlee ;Muzhirah Aisha Md Haniffa ;Yusnita YakobLock Hock NguMucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce.