Author:
Saville Jennifer T.,Herbst Zackary M.,Gelb Michael H.,Fuller Maria
Funder
National Institutes of Health
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference38 articles.
1. Prevalence of lysosomal storage disorders in Australia from 2009 to 2020;Chin;Lancet Reg. Health West Pac.,2021
2. The mucopolysaccharidoses;Neufeld,2001
3. Current and new therapies for mucopolysaccharidoses;Penon-Portmann;Pediatr. Neonatol.,2023
4. Laboratory diagnosis of lysosomal diseases: newborn screening to treatment;Fuller;Clin. Biochem. Rev.,2020
5. Disease and subtype specific signatures enable precise diagnosis of the mucopolysaccharidoses;Saville;Genet. Med.,2019