Replication data for: "Molecular profile of Mucopolysaccharidosis type I patients in Brazil"

Repositório Aleia 2026 Dataset Open access

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Authors: Carlos Robson Costa Cruz, Édina Poletto, Larissa Mota Silva, Gabriela Pasqualim, Alice Brinckmann Oliveira Netto, Sandra Leistner, Ana Carolina Brusius‐Facchin, Franciele Barbosa Trapp, Ursula S. Matte, Roberto Giugliani, Guilherme Baldo
DOI: 10.48472/deposita/t9fgy3
Cited by: 0

Abstract

This dataset contains clinical information and biochemical and molecular diagnostic data from anonymized Brazilian patients with Mucopolysaccharidosis type I (MPS I), diagnosed between 2000 and 2022 within the scope of the Brazilian MPS Network. In this study, we performed molecular analysis on 119 MPS I patients, representing the largest Brazilian cohort studied so far. Forty-seven different mutations were identified in our sample, and 13 of them are newly described: c.48delG, c.78delC, c.159-23_159-1del23, p.Gln125Ter, p.Trp175Ter, c.590-6ins4G, c.763delC, c.973-1G>A, p.Asp349Glu, p.Asn350Lys, p.Lys384Asn, c.1403-12_1403-4del9 and p.Lys546Ter.

Publication details

Journal / source
Repositório Aleia
Publication date
8 January 2026
Document type
Dataset