Morquio‐B disease: Clinical and genetic characteristics of a distinct GLB1‐related dysostosis multiplex

BACKGROUND: Morquio‐B disease (MBD) is a distinct GLB1‐related dysostosis multiplex involving the trabecular parts of long bones and spine, presenting a mild phenocopy of GALNS‐related Morquio‐A disease. METHODS: We analyzed 63 (n = 62 published) cases with MBD to describe their clinical, biochemica...

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Detalles Bibliográficos
Autores principales: Abumansour, Iman S., Yuskiv, Nataliya, Paschke, Eduard, Stockler‐Ipsiroglu, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012745/
https://www.ncbi.nlm.nih.gov/pubmed/32071837
http://dx.doi.org/10.1002/jmd2.12065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012745/
https://www.ncbi.nlm.nih.gov/pubmed/32071837
http://dx.doi.org/10.1002/jmd2.12065

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