The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia-Reference-Cited by-同舟云学术

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The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia

Published:2017-09-15 Issue:1 Volume:9 Page:65-70
ISSN:1868-310X
Container-title:Journal of Community Genetics
language:en
Short-container-title:J Community Genet

Author:

Al-Sannaa Nouriya Abbas,Al-Abdulwahed Hind Yousif,Al-Majed Sami Ibrahim,Bouholaigah Issam Hassan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Public Health, Environmental and Occupational Health,Epidemiology

Link

http://link.springer.com/article/10.1007/s12687-017-0329-1/fulltext.html

Reference16 articles.

1. Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011–1017

2. Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, Boa Sorte T, da Silva D, Bittles A, Giugliani R, Leistner-Segal S (2014) A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered 77(1–4):189–196. https://doi.org/10.1159/000358404

3. Giugliani R, Harmatz P, Wraith JE (2007) Management guidelines for mucopolysaccharidosis VI. Pediatrics 120(2):405–418 Review

4. Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC et al (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 148:533–539

5. Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC et al (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human Nacetylgalactosamine 4-sulfatase. Mol Genet Metab 94:469–475

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1. Causes of death in mucopolysaccharidoses;Molecular Genetics and Metabolism;2024-07

2. The clinical and genotypic–phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study;Annals of Medicine & Surgery;2023-09-06

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

4. Clinical, endocrine and genetic spectrums of mucopolysaccharidoses type VI in Duhok city, Kurdistan region, Iraq;Cellular and Molecular Biology;2022-07-31

5. Misdiagnosis in mucopolysaccharidoses;Journal of Applied Genetics;2022-05-13

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