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Article

The molecular basis of Sanfilippo syndrome type B.

Proceedings of the National Academy of Sciences of the United States of America - 11 Jun 1996

Zhao H G, Li H H, Bach G, Schmidtchen A, Neufeld E F

Abstract excerpt

The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Cloning started with...

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Source

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Identifiers

PMID: 8650226
DOI: 10.1073/pnas.93.12.6101
PMCID: PMC39196

Genes

NAGLU

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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