Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations

ABSTRACT Morquio A syndrome (MPS IVA) is a systemic lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS), encoded by the GALNS gene. We studied 37 MPS IV A patients and defined genotype–phenotype correlations based on clinical data, biochemical assays, mol...

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