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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| Format: | Article |
| Language: | English |
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Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000357 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Fabiano de Oliveira Poswar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-423efcbef9e746ca8bcc58a5708e20a3 |
| institution | OA Journals |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-423efcbef9e746ca8bcc58a5708e20a32025-08-20T02:07:34ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-06-014310122010.1016/j.ymgmr.2025.101220Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosisFabiano de Oliveira Poswar0Tamires Silva Alves1Daniel Rocha de Carvalho2Hélio van der Linden, Jr3Charles Marques Lourenço4Dafne Dain Gandelman Horovitz5Anneliese Barth6Carmen Silvia Curiati Mendes7Ana Maria Martins8Roberto Giugliani9Medical Genetics Service, HCPA, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, BrazilMedical Genetics Service, HCPA, Porto Alegre, Brazil; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, BrazilGenetics Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, BrazilDepartment of Paediatric Neurology, Neurological Institute of Goiânia, Goiânia, BrazilMedical School, São José do Rio Preto, BrazilMedical Genetics Center, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, BrazilMedical Genetics Center, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, BrazilIGEIM, UNIFESP, São Paulo, BrazilIGEIM, UNIFESP, São Paulo, BrazilMedical Genetics Service, HCPA, Porto Alegre, Brazil; Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Brazil; Postgraduate Program in Child and Adolescent Health, UFRGS, Porto Alegre, Brazil; INAGEMP, Porto Alegre, Brazil; Dasa Genômica, São Paulo, Brazil; Casa dos Raros, Porto Alegre, Brazil; Corresponding author at: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, RS 90035-903, Brazil.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.http://www.sciencedirect.com/science/article/pii/S2214426925000357Neurologic manifestationsNatural historyLysosomal storage diseasesOligosaccharides |
| spellingShingle | 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 Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis Molecular Genetics and Metabolism Reports Neurologic manifestations Natural history Lysosomal storage diseases Oligosaccharides |
| title | Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis |
| title_full | Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis |
| title_fullStr | Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis |
| title_full_unstemmed | Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis |
| title_short | Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis |
| title_sort | disease profile in a cohort of brazilian patients diagnosed with alpha mannosidosis |
| topic | Neurologic manifestations Natural history Lysosomal storage diseases Oligosaccharides |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000357 |
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