Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Erin T. Strovel, Kristina Cusmano‐Ozog, Tim Wood, Chunli Yu
Topics & Concepts
Genetic testingMedical geneticsGlycosaminoglycanBiomarkerMedicineEnzymeClinical significanceComputational biologyBiologyGeneBioinformaticsBiochemistryGeneticsPathologyLysosomal Storage Disorders ResearchTrypanosoma species research and implicationsCalcium signaling and nucleotide metabolism