Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

BACKGROUND: Morquio A syndrome is a rare, autosomal recessive, progressively debilitating disorder, with multi-system impairments and high medical burden. Quebec, Canada has a large Morquio A population, which is considered unique due to the presence of founder pathogenic variants. The objectives of...

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Detalles Bibliográficos
Autores principales: Moisan, Lina, Iannuzzi, David, Maranda, Bruno, Campeau, Philippe M., Mitchell, John J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526408/
https://www.ncbi.nlm.nih.gov/pubmed/32993725
http://dx.doi.org/10.1186/s13023-020-01545-y

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