Scheie Syndrome Diagnosis in Early Childhood: Case Study

Scheie Syndrome Diagnosis in Early Childhood: Case Study

Background. Diagnosis of the mild form of mucopolysaccharidosis type I (MPS I) — Scheie syndrome — can be problematic due to its non-specific manifestations. However, its early detection is crucial for the timely therapy initiation and for improving patients’ quality of life. Case presentation. Boy...

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Bibliographic Details
Main Authors: Nataliya V. Buchinskaya, Anastasia O. Vechkasova, Ekaterina D. Ganina, Ekaterina Е. Shipovskova, Victoriya A. Lapina, Yana A. Ananyeva, Nataliya V. Zhurkova, Nato D. Vashakmadze, Vladimir M. Kenis, Mikhail M. Kostik
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2025-07-01
Series:Вопросы современной педиатрии
Subjects:
mucopolysaccharidosis type i
scheie syndrome
clinical case
diagnosis
Online Access:https://vsp.spr-journal.ru/jour/article/view/3781
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https://vsp.spr-journal.ru/jour/article/view/3781

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