Mucopolysaccharidosis Type I (Hurler - Scheie Syndrome): Case Report
Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicatin...
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"Paediatrician" Publishers LLC,
2024-09-01T00:00:00Z.
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