Work

Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis

Year: 2025

Type: article

Study design: Observational Study

Abstract: Alpha-mannosidosis (AM) is an ultrarare multisystemic disorder caused by alpha-mannosidase deficiency. This is the first comprehensive report on AM in Brazil, analyzing clinical and laboratory data from 14 patients diagnosed between 2001 and 2021. We summarize the patient diagnostic journey in the country, including the most common presenting symptoms, the time from disease onset to diagnosis and discuss other disease manifestations. Our findings may improve the disease awareness and understanding in the country.

Source: Molecular Genetics and Metabolism Reports

DOI: 10.1016/j.ymgmr.2025.101220

Authors: Fabiano de Oliveira Poswar, Tamires Silva Alves, Daniel Rocha de Carvalho, Hélio van der Linden, Charles Marques Lourenço, Dafne Dain Gandelman Horovitz, Anneliese Barth, Carmen Silvia Curiati Mendes, Ana Maria Martins, Roberto Giugliani

Institutions: Universidade Federal do Rio Grande do Sul, Hospital de Clínicas de Porto Alegre, Sarah Network of Rehabilitation Hospitals, Faculdade de Medicina de São José do Rio Preto, Fundação Oswaldo Cruz, Universidade Federal de São Paulo, National Institute on Population Medical Genetics, Casa dos Raros

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,400

Funder: Chiesi Farmaceutici

OpenAlex ID: W4409369897

FWCI:

Cites: 9

Cited by:

Related to: 10