Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene-Reference-Cited by-同舟云学术

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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in theARSBgene

Published:2018-09-17 Issue:12 Volume:39 Page:1788-1802
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tomanin Rosella¹^ORCID,Karageorgos Litsa²^ORCID,Zanetti Alessandra¹^ORCID,Al-Sayed Moeenaldeen³,Bailey Mitch⁴,Miller Nicole⁴,Sakuraba Hitoshi⁵,Hopwood John J.²

Affiliation:

1. Laboratory of Diagnosis and Therapy of Lysosomal Disorders; Department of Women's and Children's Health; University of Padova and “Fondazione Istituto di Ricerca Pediatrica Città della Speranza”; Padova Italy

2. Hopwood Centre for Neurobiology; South Australian Health and Medical Research Institute; Adelaide Australia

3. King Faisal Specialist Hospital and Research Centre; Riyadh Saudi Arabia

4. BioMarin Pharmaceutical Inc.; Novato CA United States

5. Department of Clinical Genetics; Meiji Pharmaceutical University; Tokyo Japan

Funder

BioMarin Pharmaceutical Inc

Università degli Studi di Padova

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23613/fullpdf

Reference83 articles.

1. Delivering genetic education and genetic counseling for rare diseases in rural Brazil;Acosta;Journal of Genetic Counseling,2013

2. Cumulative incidence rates of the mucopolysaccharidoses in Germany;Baehner;Journal of Inherited Metabolic Disease,2005

3. Hematopoietic stem cell gene therapy for storage disease: Current and new indications;Biffi;Molecular Therapy,2017

4. Structure of a human lysosomal sulfatase;Bond;Structure,1997

5. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): A Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalatosamine 4-sulfatase at multiple points in the vacuolar network;Bradford;Biochemistry,2002

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1. The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil);Journal of Community Genetics;2024-08-19

2. Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia;Orphanet Journal of Rare Diseases;2024-07-17

3. Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review);Molecular Medicine Reports;2024-07-15

4. The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil);2024-02-21

5. Identification of new variants in patients with mucopolysaccharidosis in consanguineous Iranian families;Frontiers in Genetics;2024-02-15

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