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

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

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 c...

Full description

Saved in:
Bibliographic Details
Main Authors: Fabiano de Oliveira Poswar, Tamires Silva Alves, Daniel Rocha de Carvalho, Hélio van der Linden, Jr, Charles Marques Lourenço, Dafne Dain Gandelman Horovitz, Anneliese Barth, Carmen Silvia Curiati Mendes, Ana Maria Martins, Roberto Giugliani
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Neurologic manifestations
Natural history
Lysosomal storage diseases
Oligosaccharides
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000357
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

http://www.sciencedirect.com/science/article/pii/S2214426925000357

Similar Items