ArticleGenetics and molecular biology
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory.
Article in Genetics and molecular biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- A systematic review on the birth prevalence of metachromatic leukodystrophy.Orphanet journal of rare diseases · 2024Pooled it
- A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.Journal of clinical medicine · 2026Article
- Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.Molecular genetics and metabolism reports · 2025Article
- Hematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.Bone marrow transplantation · 2025Article
- Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.Arquivos de neuro-psiquiatria · 2025Article
- Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.International journal of molecular sciences · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- [Application of adeno-associated virus-mediated gene therapy in lysosomal storage diseases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.American journal of medical genetics. Part A · 2022Article
- Evolving therapies in neuronopathic LSDs: opportunities and challenges.Metabolic brain disease · 2022Review
- Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions.Genetics and molecular biology · 2021Article
- Clinical Trials for Gene Therapy in Lysosomal Diseases With CNS Involvement.Frontiers in molecular biosciences · 2021Review
- COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.Genetics and molecular biology · 2021Article
- Precision Medicine for Lysosomal Disorders.Biomolecules · 2020Review
- The Lysosomal Diseases Testing Laboratory: A review of the past 47 years.JIMD reports · 2020Article
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.Journal of clinical medicine · 2020Article
- Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.Genetics and molecular biology · 2020Article
- Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.American journal of medical genetics. Part A · 2019Article
- Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?Italian journal of pediatrics · 2019Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some of these conditions, diagnosis usually depends on specific enzyme assays, which are only available in a few laboratories around the world. A pioneer facility for the diagnosis of IEM and LSDs was established in the South of Brazil in 1982 and has served as a reference service since then. Over the past 34 years, samples from 72,797 patients were referred for investigation of IEM, and 3,211 were confirmed as having an LSD (4.41%, or 1 in 22), with 3,099 of these patients originating from Brazil. The rate of diagnosis has increased over time, in part due to the creation of diagnostic networks involving a large number of Brazilian services. These cases, referred from Brazilian regions, provide insight about the relative frequency of LSDs in the country. The large amount of data available allows for the estimation of the minimal frequency of specific LSDs in Brazil. The reported data could help to plan health care policies, as there are specific therapies available for most of the cases diagnosed.
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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.