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: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JMIR Publications
2024-11-01
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| Series: | JMIR Research Protocols |
| Online Access: | https://www.researchprotocols.org/2024/1/e56649 |
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