All Stories

  1. Paving the way for Brazil’s first national rare diseases registry: the RARAS data governance model

    Article • BMC Digital Health, October 2025, Springer Science + Business Media

    Bibiana de Oliveira

  2. Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool

    Article • Nutrients, May 2025, MDPI AG

    Bibiana de Oliveira

  3. State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases

    Article • Journal of Inherited Metabolic Disease, May 2025, Wiley

    Bibiana de Oliveira

  4. Redefining the approach to rare diseases: the experience of “Casa dos Raros” in Brazil

    Article • Journal of Community Genetics, February 2025, Springer Science + Business Media

    Bibiana de Oliveira

  5. Developing a Genomic Minimum Data Set for Rare Diseases in Brazil: A Delphi Protocol Approach

    Article • Procedia Computer Science, January 2025, Elsevier

    Bibiana de Oliveira

  6. Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

    Article • Orphanet Journal of Rare Diseases, October 2024, Springer Science + Business Media

    Bibiana de Oliveira

  7. Building a National Policy for Rare Disease in Brazil

    Article • Journal of Community Genetics, September 2024, Springer Science + Business Media

    Bibiana de Oliveira

  8. Potential use of other starch sources in the treatment of glycogen storage disease type Ia – an in vitro study

    Article • Orphanet Journal of Rare Diseases, July 2024, Springer Science + Business Media

    Bibiana de Oliveira

  9. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease

    Article • Arquivos de Neuro-Psiquiatria, May 2024, Thieme Publishing Group

    Bibiana de Oliveira

  10. Rare diseases diagnosed through neonatal screening: Data from the Brazilian rare diseases network

    Article • Molecular Genetics and Metabolism, April 2024, Elsevier

    Bibiana de Oliveira

  11. ICD-10 - ORPHA: An Interactive Complex Network Model for Brazilian Rare Diseases

    Article • Procedia Computer Science, January 2024, Elsevier

    Bibiana de Oliveira

  12. Association between genetic factors and molar-incisor hypomineralisation or hypomineralised second primary molar: A systematic review

    Article • Archives of Oral Biology, August 2023, Elsevier

    Bibiana de Oliveira

  13. The Minimum Data Set for Rare Diseases: Systematic Review

    Article • Journal of Medical Internet Research, July 2023, JMIR Publications Inc.

    Bibiana de Oliveira

  14. Genetic Testing Access in Brazil: Insights from Brazilian Rare Diseases Network

    Article • Public Health Genomics, June 2023, Karger Publishers

    Dr Temis M Felix, Bibiana de Oliveira

  15. LANDSCAPE OF INBORN ERRORS OF METABOLISM IN BRAZIL: DATA FROM THE BRAZILIAN RARE DISEASES NETWORK

    Article • Molecular Genetics and Metabolism, March 2023, Elsevier

    Bibiana de Oliveira

  16. A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study

    Article • Biomedicines, January 2023, MDPI AG

    Bibiana de Oliveira

  17. Periodontal Ehlers–Danlos syndrome in early childhood: A case report of loss of deciduous teeth

    Article • Journal of Indian Society of Periodontology, January 2023, Medknow

    Bibiana de Oliveira

  18. The Minimum Data Set for Rare Diseases: Systematic Review (Preprint)

    Article • December 2022, JMIR Publications Inc.

    Bibiana de Oliveira

  19. Higher maternal age is associated with higher occurrence of cleft lip/palate in neonates under intensive care

    Article • Brazilian Journal of Oral Sciences, November 2022, Universidade Estadual de Campinas

    Bibiana de Oliveira

  20. Body composition in patients with hepatic glycogen storage diseases

    Article • Nutrition, November 2022, Elsevier

    Bibiana de Oliveira

  21. Same Country, Different Realities: The Detection of Congenital Defects at Birth in Brazil Between 2008 and 2018

    Article • COJ Nursing & Healthcare, September 2022, Crimson Publishers

    Bibiana de Oliveira

  22. Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

    Article • Orphanet Journal of Rare Diseases, February 2022, Springer Science + Business Media

    Bibiana de Oliveira

  23. Two different presentations of de novo variants of CSNK2B: two case reports

    Article • Journal of Medical Case Reports, January 2022, Springer Science + Business Media

    Bibiana de Oliveira

  24. Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers

    Article • Journal of Inborn Errors of Metabolism and Screening, January 2022, FapUNIFESP (SciELO)

    Bibiana de Oliveira

  25. National Network for Rare Diseases in Brazil: The Computational Infrastructure and Preliminary Results

    Article • January 2022, Springer Science + Business Media

    Bibiana de Oliveira

  26. The minimum dataset for rare diseases in Brazil: a systematic review protocol

    Article • Procedia Computer Science, January 2022, Elsevier

    Bibiana de Oliveira

  27. A importância da Odontologia na assistência a indivíduos com defeitos congênitos

    Article • Revista da Faculdade de Odontologia de Porto Alegre, August 2021, Universidade Federal do Rio Grande do Sul

    Bibiana de Oliveira

  28. A triple-blinded crossover study to evaluate the short-term safety of sweet manioc starch for the treatment of glycogen storage disease type Ia

    Article • Orphanet Journal of Rare Diseases, June 2021, Springer Science + Business Media

    Bibiana de Oliveira

  29. Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders

    Article • Journal of Inborn Errors of Metabolism and Screening, January 2021, FapUNIFESP (SciELO)

    Bibiana de Oliveira