Overcoming the barriers to diagnosis of Morquio A syndrome-Reference-Cited by-同舟云学术

Overcoming the barriers to diagnosis of Morquio A syndrome

Published:2014-11-30 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Bhattacharya Kaustuv,Balasubramaniam Shanti,Choy Yew Sing,Fietz Michael,Fu Antony,Jin Dong Kyu,Kim Ok-Hwa,Kosuga Motomichi,Kwun Young Hee,Inwood Anita,Lin Hsiang-Yu,McGill Jim,Mendelsohn Nancy J,Okuyama Torayuki,Samion Hasri,Tan Adeline,Tanaka Akemi,Thamkunanon Verasak,Toh Teck-Hock,Yang Albert D,Lin Shuan-Pei

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0192-7.pdf

Reference32 articles.

1. Di Ferrante N, Ginsberg LC, Donnelly PV, Di Ferrante DT, Caskey CT: Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses. Science. 1978, 199: 79-81. 10.1126/science.199.4324.79.

2. Dorfman A, Arbogast B, Matalon R: The enzymatic defects in Morquio and Maroteaux-Lamy syndrome. Adv Exp Med Biol. 1976, 68: 261-276. 10.1007/978-1-4684-7735-1_18.

3. Glössl J, Kresse H: Impaired degradation of keratan sulphate by Morquio A fibroblasts. Biochem J. 1982, 203: 335-338.

4. Wraith JE: The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child. 1995, 72 (Suppl 3): 263-267. 10.1136/adc.72.3.263.

5. Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, Lampe C: Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014, 7 (9): 32-10.1186/1750-1172-9-32.

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date;American Journal of Medical Genetics Part A;2024-05-03

2. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07

3. The development of pGALSplus: evaluating feasibility and acceptability of an assessment to facilitate the identification and triage of children with musculoskeletal presentations;Rheumatology Advances in Practice;2024

4. Beyond pGALS: the need for a multifaceted musculoskeletal decision-making tool (‘pGALSplus’) in community-based clinical practice;Rheumatology Advances in Practice;2023-12-09

5. A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV);Pediatric Radiology;2023-01-11