Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants
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DOI: 10.3390/ijms23179979
Abstract: Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types… read more here.
Keywords: mps iva; mucopolysaccharidoses taiwanese; diagnosis; updated confirmatory ... See more keywords