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

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

Abstract 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 objec...

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Bibliographic Details
Main Authors: Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Canada
Founder effects
Genetic disorders
Mucopolysaccharidosis IVA
Activities of daily living
Walk test
Online Access:http://link.springer.com/article/10.1186/s13023-020-01545-y

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http://link.springer.com/article/10.1186/s13023-020-01545-y

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