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Article

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Human mutation - 1 Jan 1998

Di Natale P, Balzano N, Esposito S, Villani G R

Abstract excerpt

Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by the deficiency of the enzyme heparin sulfamidase (EC 3.10.1.1), required for the degradation of the mucopolysaccharide heparan sulfate. Patients develop central nervous system degeneratio...

Topics

Alleles
Base Sequence
DNA
DNA Mutational Analysis
DNA Primers
DNA Restriction Enzymes
Founder Effect
Genotype
Humans
Hydrolases
Italy
Mucopolysaccharidosis III
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 9554748
DOI: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9554748-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.PMID 9554748Read ↗

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Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).Semantic proximity Read ↗

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.Semantic proximity Read ↗

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