Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan-Reference-Cited by-同舟云学术

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Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

Published:2023-12 Issue: Volume:37 Page:101003
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Hattori Yusuke,Sawada Takaaki,Kido Jun,Sugawara Keishin,Yoshida Shinichiro,Matsumoto Shirou,Inoue Takahito,Hirose Shinichi,Nakamura Kimitoshi

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labour and Welfare

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference40 articles.

1. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene;Hopwood;Hum. Mutat.,1993

2. A molecular genetics view on Mucopolysaccharidosis type II;Verma;Mutat. Res. Rev. Mutat. Res.,2021

3. Mucopolysaccharidosis type II (hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy;Wraith;Eur. J. Pediatr.,2008

4. Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II;Holt;J. Pediatr.,2011

5. Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment;D’avanzo;Int. J. Mol. Sci.,2020

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