Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.

Huey Yin LeongNor Azimah Abdul AzizeHui Bein ChewWee Teik KengMeow Keong ThongMohd Khairul Nizam Mohd KhalidLiang Choo HungNorzila Mohamed ZainudinAzura RamleeMuzhirah Aisha Md HaniffaYusnita YakobLock Hock Ngu

Published in: Orphanet journal of rare diseases (2019)

All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.

Keyphrases

genome wide
end stage renal disease
chronic kidney disease
ejection fraction
copy number
newly diagnosed
gene expression
prognostic factors
quality improvement
human immunodeficiency virus
patient reported