Evidence map›Paper›PMID 40276561›Full record

ArticleMolecular genetics and metabolism reports2025

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

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

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Fabiano de Oliveira PoswarMedical Genetics Service, HCPA, Porto Alegre, Brazil.
Tamires Silva AlvesMedical Genetics Service, HCPA, Porto Alegre, Brazil.
Daniel Rocha de CarvalhoGenetics Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Hélio van der LindenDepartment of Paediatric Neurology, Neurological Institute of Goiânia, Goiânia, Brazil.
Charles Marques LourençoMedical School, São José do Rio Preto, Brazil.
Dafne Dain Gandelman HorovitzMedical Genetics Center, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, Brazil.
Anneliese BarthMedical Genetics Center, Fernandes Figueira Institute, FIOCRUZ, Rio de Janeiro, Brazil.
Carmen Silvia Curiati MendesIGEIM, UNIFESP, São Paulo, Brazil.
Ana Maria MartinsIGEIM, UNIFESP, São Paulo, Brazil.
Roberto GiuglianiMedical Genetics Service, HCPA, Porto Alegre, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Lysosomal storage diseasesNatural historyNeurologic manifestationsOligosaccharides

Identifiers

PMID40276561
PMCPMC12018040

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.