From diagnosis to treatment of mucopolysaccharidosis type VI: A case report with a novel variant, c.1157C>T (p.Ser386Phe), in ARSB gene
Author:
Affiliation:
1. Division of Medical Genetics and Metabolism, Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Korea
Funder
Pusan National University Yangsan Hospital
Publisher
Korean Society of Medical Genetics
Subject
General Medicine
Link
http://pdf.medrang.co.kr/JGM/2022/019/JGM019-01-32.pdf
Reference15 articles.
1. Mucopolysaccharidosis VI pathophysiology diagnosis and treatment
2. Overview of the mucopolysaccharidoses
3. Wichajarn K, Kim J, Yang A, Sohn YB, Lee BH, Yoo HW, et al. Clinical features, molecular analysis, and outcome of ERT in Korean patients with mucopolysaccharidosis type VI. J Korean Soc Inherit Metab Dis 2016;16:24-33.
4. Age-Specific Reference Intervals for Indexed Left Ventricular Mass in Children
5. Standard Liver Volume-Predicting Formulae Derived From Normal Liver Volume in Children Under 18 Years of Age
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