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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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
"Paediatrician" Publishers LLC,
2024-09-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |