Article

Clinical and genetic landscapes of mucopolysaccharidosis type III in 20 Chinese patients

2026-07-31

Abstract excerpt

Abstract Background 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 disorder. As the subtype distribution...

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Literature Corpus work: 6f70b249-5f1a-5488-81ba-e1a42347b493
DOI: 10.1186/s13023-026-04484-2

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