Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study-Reference-Cited by-同舟云学术

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

Published:2019-06-14 Issue:1 Volume:14 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Leong Huey Yin^ORCID,Abdul Azize Nor Azimah,Chew Hui Bein,Keng Wee Teik,Thong Meow Keong,Mohd Khalid Mohd Khairul Nizam,Hung Liang Choo,Mohamed Zainudin Norzila,Ramlee Azura,Md Haniffa Muzhirah Aisha,Yakob Yusnita,Ngu Lock Hock

Funder

BioMarin Pharmaceutical

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-019-1105-6.pdf

Reference56 articles.

1. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(Suppl 5):v4–12.

2. Khan S, Alméciga-Díaz CJ, Sawamoto K, Mackenzie WG, Theroux MC, Pizarro C, et al. Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab. 2017;120:78–95.

3. Solanki GA, Martin KW, Theroux MC, Lampe C, White KK, Shediac R, et al. Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio a syndrome): presentation, diagnosis and management. J Inherit Metab Dis. 2013;36:339–55.