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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2019
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| Materias: | |
| 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 |