Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference68 articles.
1. Author correction: lysosomal storage diseases;Platt;Nat Rev Dis Primers,2018
2. Lysosomal storage diseases: from pathophysiology to therapy;Parenti;Annu Rev Med,2015
3. Lysosomal ion channels as decoders of cellular signals;Li;Trends Biochem Sci,2019
4. Sorting of lysosomal proteins;Braulke;Biochim Biophys Acta,2019
5. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri;Mol Genet Metab,2008
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