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College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance

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Purpose: Glycosaminoglycans (GAGs) accumulate in patients with mucopolysaccharidoses (MPS), multiple sulfatase deficiency, and mucolipidoses; measurement of total GAGs and the specific excretion pattern by fractionation can aid i... ...