Article

Clinical and Genetic Landscapes of Mucopolysaccharidosis Type III in 20 Chinese Patients

2026-04-01

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a devastating lysosomal storage disorder characterized by severe, progressive neurodegeneration. Diagnosing this condition is challenging because early somatic signs are often mild, frequently leading to misdiagnosis as autism spectrum disorder or attention-deficit/hyperactivity d...

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Literature Corpus work: 6c89c2ab-37da-575e-9fd5-17f7048ab7ee
DOI: 10.21203/rs.3.rs-8576442/v1

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