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...

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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
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Summary: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.
ISSN:2214-4269

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