Two cases of type I sialidosis and a literature review
- Published on 01/10/2025
- Reading time: 5 min.
Ding Yuan 1,2, Cheng Ming 1,2, Gong Chunxiu 1,2
1 Department of Endocrinology, Beijing Children’s Hospital Capital Medical University, National Centre for Children’s Health 100045 Genetics, Metabolism, Beijing China
2 MOE Key Laboratory of Major Diseases in Children, Beijing Children’s Hospital Capital Medical University, National Center for Children’s Health 56#Nan Lishi Rd, West District 100045 Beijing China
Abstract
Objective This study aims to compare the clinical and electrophysiological characteristics of two cases of type I sialidosis in Chinese children with those reported in prior literature. The goal is to elucidate the clinical and genetic features of type I sialidosis.
Methods Clinical investigations and genetic analyses were conducted on an 11-year-old girl, primarily presenting with short stature, who was admitted in June 2020, and a 10-year-old boy, admitted...
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