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Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.

Gene - 30 Jun 2024

Nasir Shalal Mahzad, Aminzadeh Majid, Saberi Alihossein, Azizi Malmiri Reza, Aminzadeh Reza, Ghandil Pegah

Abstract excerpt

BACKGROUND: There are four distinct forms of Sanfilippo syndrome (MPS type III), each of which is an autosomal lysosomal storage disorder. These forms are caused by abnormalities in one of four lysosomal enzymes. This study aimed to identify possible genetic variants that contribute to Sanfilippo IIIB in 14 independent families in Southwest Iran. METHODS: Patients were included if their clinical features and...

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Identifiers

PMID: 38492611
DOI: 10.1016/j.gene.2024.148354

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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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