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Updated: May 28, 2026

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Published on: July 19, 2019

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy

Mioara-Florentina Trandafirescu1, Elena-Roxana Avădănei1, Nina Filip1

  • 1"Grigore T. Popa" University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania.

Diagnostics (Basel, Switzerland)
|May 27, 2026
PubMed
Summary

Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a systemic storage disorder affecting multiple organs, not just the brain. Autopsy revealed widespread glycosaminoglycan accumulation, impacting cardiovascular and visceral systems, contributing to mortality.

Keywords:
Sanfilippo syndromeautopsyfoam cellsglycosaminoglycanshistopathologylysosomal storage disordermucopolysaccharidosis type IIImultisystem involvement

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