Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease
Author:
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
Reference26 articles.
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1. Re: “Molecular analysis of 9 unrelated families presenting with juvenile and chronic GM1 gangliosidosis”;Journal of Inborn Errors of Metabolism and Screening;2024
2. Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?;JIMD Reports;2021-03-18
3. Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex;International Journal of Molecular Sciences;2020-11-30
4. Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1 ‐related dysostosis multiplex;JIMD Reports;2019-11-28
5. Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis;Journal of Inborn Errors of Metabolism and Screening;2016-04-12
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