Article

Development and fit for purpose validation of a quantitative LC-MS/MS method for heparan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis type IIIA

2026-03-30

Abstract excerpt

<h4>Background</h4> Mucopolysaccharidosis type IIIA (MPS IIIA; Sanfilippo syndrome) is a fatal neurodegenerative lysosomal storage disorder caused by impaired degradation of heparan sulfate (HS). Despite rapid advances in gene and enzyme therapies, there remains a critical need for an analytically validated, quantitative biomarker that accurately reflects central nervous system (CNS) substrate burden. Such biomar...

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Literature Corpus work: 7ad0e742-1419-5436-8c62-7004f91995e4
DOI: 10.64898/2026.03.27.26348847

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