Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

BackgroundMucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This leads to a deficiency of the GAL...

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Main Authors: Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa
Format: Article
Language:English
Published: JMIR Publications 2024-11-01
Series:JMIR Research Protocols
Online Access:https://www.researchprotocols.org/2024/1/e56649
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