ReviewOrphanet journal of rare diseases2016
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.
Review in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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.
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.
Who cites it
16 citing papers in PubMed.
- A National Overview of Nutritional Care in Diet-Treated Inborn Errors of Metabolism in Brazil.International journal of environmental research and public health · 2026Article
- Variant profile of Brazilian patients with Sanfilippo syndrome type B.Genetics and molecular biology · 2026Article
- Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.Journal of community genetics · 2025Article
- Building a National Policy for Rare Disease in Brazil.Journal of community genetics · 2025Review
- Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases.Journal of community genetics · 2025Article
- Clinical research in rare diseases in Brazil: challenges and opportunities.Journal of community genetics · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.Orphanet journal of rare diseases · 2024Article
- Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.International journal for equity in health · 2023Review
- Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).Orphanet journal of rare diseases · 2022Article
- Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.Orphanet journal of rare diseases · 2021Review
- Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study.JMIR research protocols · 2021Article
- Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.Genetics and molecular biology · 2021Article
- Clinical research challenges in rare genetic diseases in Brazil.Genetics and molecular biology · 2019Article
- Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years' experience from a reference center.Orphanet journal of rare diseases · 2018Review
- Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.Molecular genetics and metabolism reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does not provide adequate coverage for genetic medical procedures. In 2014, SUS introduced the "Policy for the Integral Attention to Subjects with Rare Diseases", establishing guidelines for offering diagnosis and treatment. The policy defines the two main axes, genetic and non-genetic rare diseases. In this fashion, public genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases. Unfortunately, up to now this policy is still depending on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.