Diagnostic Quest of a Patient with a Mild Form of Mucopolysaccharidosis, Type I (Scheie Syndrome): Case Study
Background. Diagnosis of mild forms of mucopolysaccharidosis (MPS) causes significant difficulties, and its untimely recognition delays pathogenetic therapy initiation.Case description. Girl Ya., was consulted by neurologist at the age of 6 months due to delayed motor development. Umbilical hernia w...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
"Paediatrician" Publishers LLC
2026-02-01
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| coleção: | Вопросы современной педиатрии |
| Assuntos: | |
| Acesso em linha: | https://vsp.spr-journal.ru/jour/article/view/3929 |
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