A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases-Reference-Cited by-同舟云学术

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Published:2014-11-18 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:

Leadley Regina M,Lang Shona,Misso Kate,Bekkering Trudy,Ross Janine,Akiyama Takeyuki,Fietz Michael,Giugliani Roberto,Hendriksz Chris J,Hock Ngu Lock,McGill Jim,Olaye Andrew,Jain Mohit,Kleijnen Jos

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0173-x.pdf

Reference42 articles.

1. Tomatsu S, Fukuda S, Masue M, Sukegawa K, Fukao T, Yamagishi A, Hori T, Iwata H, Ogawa T, Nakashima Y, Hanyu Y, Hashimoto T, Titani K, Oyama R, Suzuki M, Yagi K, Hayashi Y, Orii T: Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. Biochem Biophys Res Commun. 1991, 181 (2): 677-683. 10.1016/0006-291X(91)91244-7.

2. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T: International morquio a registry: clinical manifestation and natural course of morquio a disease. J Inherit Metab Dis. 2007, 30 (2): 165-174. 10.1007/s10545-007-0529-7.

3. Lavery C, Hendriksz C: Mortality in patients with Morquio Syndrome A. JIMD Rep 2014, Epub 2014 Apr 10.,

4. O'Brien JS, Gugler E, Giedion A, Wiessmann U, Herschkowitz N, Meier C, Leroy J: Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency. Clin Genet. 1976, 9 (5): 495-504. 10.1111/j.1399-0004.1976.tb01603.x.

5. Arbisser AI, Donnelly KA, Scott CI, DiFerrante N, Singh J, Stevenson RE, Aylesworth AS, Howell RR: Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB. Am J Med Genet. 1977, 1 (2): 195-205. 10.1002/ajmg.1320010205.

Cited by 74 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. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions;International Journal of Molecular Sciences;2024-03-12

2. Global Birth Prevalence Of Pompe Disease: A Systematic Review and Meta-Analysis;2024

3. The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings;Journal of Biomolecular Structure and Dynamics;2023-05-24

4. Prevalence rates of mucopolysaccharidosis in Iraq: a retrospective cross-sectional observational study;F1000Research;2023-04-13

5. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges;International Journal of Environmental Research and Public Health;2023-03-08