一组巴西α-甘露糖苷酶病患者的疾病概况

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-04-11 DOI:10.1016/j.ymgmr.2025.101220

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

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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 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.

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.