All Stories

  1. 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

  2. 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

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

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

    Bibiana de Oliveira

  4. 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

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

    Article • Biomedicines, January 2023, MDPI AG

    Bibiana de Oliveira

  6. 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

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

    Article • December 2022, JMIR Publications Inc.

    Bibiana de Oliveira

  8. 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

  9. Body composition in patients with hepatic glycogen storage diseases

    Article • Nutrition, November 2022, Elsevier

    Bibiana de Oliveira

  10. 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

  11. 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

  12. 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

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

    Article • January 2022, Springer Science + Business Media

    Bibiana de Oliveira

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

    Article • Procedia Computer Science, January 2022, Elsevier

    Bibiana de Oliveira

  15. 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

  16. 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

  17. 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