Angelina Xavier Acosta

Universidade Federal da Bahia · BA · 20 publicações em 2022–2026

Lysosomal Storage Disorders ResearchMetabolism and Genetic DisordersGenomics and Rare DiseasesGlycogen Storage Diseases and MyoclonusConnective tissue disorders research

Principais coautores no Nordeste tamanho = publicações em comum

Ney Boa‐Sorte Camila Ferreira Ramos Erlane Marques Ribeiro Ellaine Dóris Fernandes Carvalho Kiyoko Abe‐Sandes Adriana Virgínia Barros Faiçal Marcela Câmara Machado Costa Maria da Conceição Nascimento Costa Maria Denise Fernandes Carvalho de Andrade Maria Glória Teixeira Maurício L. Barreto Patricia de Abreu Farias Carvalho

Publicações recentes

2026 8

Retrospective epidemiological study in a reference service for rare diseases, Salvador, 2018-2019
Bioquímica, genética e biologia molecular · Epidemiologia e Serviços de Saúde
Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
Bioquímica, genética e biologia molecular · Journal of Community Genetics
Molecular characterization of Alkaptonuria in Brazilian patients
Bioquímica, genética e biologia molecular · Molecular Genetics and Metabolism Reports
National insights into the diagnostic odyssey of Fabry disease patients in Brazil: Data from the RARAS network
Medicina · Molecular Genetics and Metabolism
Ancestry informative markers in indigenous populations from Brazil
Bioquímica, genética e biologia molecular · Scientific Reports
Clinical, epidemiological, diagnostic and therapeutic profile of Fabry disease patients: A study based on the Brazilian national network for rare diseases
Medicina · Molecular Genetics and Metabolism
Estudo epidemiológico retrospectivo em serviço de referência em doenças raras, Salvador, 2018-2019
Bioquímica, genética e biologia molecular · Epidemiologia e Serviços de Saúde
Genetic and functional analysis of CDH2 reveals new insights into CDH2-related disorders
Medicina · Genetics in Medicine

2025 1

Maternal and gestational factors associated with congenital anomalies among live births: a nationwide population-based study in Brazil from 2012 to 2020
Medicina · BMC Pregnancy and Childbirth

2024 2

Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Aspectos clínicos e diagnósticos, qualidade de vida, utilidade, adesão terapêutica e custos para angioedema hereditário associado à deficiência de C1-esterase
Medicina · HU Revista

2023 5

Temporal trends in prevalence and infant mortality of birth defects in Brazil, from 2001 to 2018
Medicina · Ciência & Saúde Coletiva
Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil
Medicina · Global Medical Genetics
Risk factors for critical and complex congenital heart diseases: Case-control study
Medicina · Progress in Pediatric Cardiology
Respiratory function of children and adolescents with osteogenesis imperfecta: respiratory muscle strength, forced vital capacity, and peak expiratory flow
Bioquímica, genética e biologia molecular · Revista Paulista de Pediatria
Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey
Medicina · Journal of Inborn Errors of Metabolism and Screening

2022 4

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Bioquímica, genética e biologia molecular · Orphanet Journal of Rare Diseases
Genetic Analysis of Osteogenesis Imperfecta in a Large Brazilian Cohort
Bioquímica, genética e biologia molecular · Bone
Functional status of individuals with osteogenesis imperfecta: data from a reference center
Bioquímica, genética e biologia molecular · Jornal de Pediatria
Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil
Bioquímica, genética e biologia molecular · Journal of Pediatric Genetics

Contagens só com publicações em revistas com Qualis (filtro na tela inicial). Dados obtidos de fontes abertas: OpenAlex (CC0), ROR (CC0), CAPES Dados Abertos (CC-BY), INEP e IBGE. Encontrou um erro sobre você? Saiba mais. Criado por Gabriel Pina.