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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Bibliografiske detaljer

Principais autores:	Natalya V. Buchinskaya, Anastasia O. Vechkasova, Ekaterina Е. Shipovskova, Nato D. Vashakmadze, Mikhail M. Kostik
Format:	Artigo
Sprog:	Inglês
Udgivet:	"Paediatrician" Publishers LLC 2026-02-01
Serier:	Вопросы современной педиатрии
Fag:	мукополисахаридоз тип i синдром шейе клинический случай диагностика динамическое наблюдение лечение
Online adgang:	https://vsp.spr-journal.ru/jour/article/view/3929
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