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: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2024-09-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3568 |
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