Abstract:Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of
metabolism (IEM) diagnosed through a combination of clinical,
biochemical, and genetic investigations. The aim of this study was
molecular characterization of the largest cohort of Iranian MPS patients
(302 patients from 289 unrelated families), along with tracking their
ethnicity and geographical origins. 185/289 patients were studied using
an IEM-targeted NGS panel followed by complementary Sanger sequencing,
which led to the diagnosis of … Show more
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