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Article

How close are we to therapies for Sanfilippo disease?

Metabolic brain disease - 1 Feb 2018

Gaffke Lidia, Pierzynowska Karolina, Piotrowska Ewa, Węgrzyn Grzegorz

Abstract excerpt

Sanfilippo disease is one of mucopolysaccharidoses (MPS), a group of lysosomal storage diseases characterized by accumulation of partially degraded glycosaminoglycans (GAGs). It is classified as MPS type III, though it is caused by four different genetic defects, determining subtypes A, B, C and D. In each subtype of MPS III, the primary storage GAG is heparan sulfate (HS), but mutations leading to A, B, C, and D...

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Topics

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Share to Acetylglucosaminidase
Share to Cellular transport and secretion
Share to Genetic Therapy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematopoietic Stem Cell Transplantation

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Share to Lysosomal Storage Disorders Research

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Source

Open in PubMed Open full text

Identifiers

PMID: 28921412
DOI: 10.1007/s11011-017-0111-4
PMCID: PMC5769821

Genes

GNS
HGSNAT
NAGLU
SGSH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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