The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
Author:
Affiliation:
1. Departments of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2. Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Publisher
Annals of Laboratory Medicine
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
Link
https://synapse.koreamed.org/pdf/10.3343/alm.2013.33.1.75
Reference22 articles.
1. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
2. The frequency of lysosomal storage diseases in The Netherlands
3. Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence
4. Prevalence of lysosomal storage diseases in Portugal
5. Prevalence of Lysosomal Storage Disorders
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