Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.

de Oliveira BM, Broch MS, de Oliveira CP, Piovesana A, Lorea CF, Scortegagna ML, Fighera GZ, Viegas I, Barp LP, Alonso M, Vergara A, Martins AM, Grumach AS, Acosta AX, Ribeiro BFR, Ramos CF, Grangeiro CHP, Kim CA, Melo DG, Michelatto D, Christofolini D, Carvalho EDF, Ribeiro EM, Serpa FS, Brandão FR, Monlleó IL, Oliveira JA, Llerena JC Jr, Donis KC, Giuliani LR, Pinto LLC, da Silva LCS, Costa MCM, Galera MF, Giusti MMCG, Santos MLSF, de Andrade MDFC, Cardoso MTO, Caldato MCF, Pereira NG, Boa Sorte N, de Medeiros PFV, Zen PRG, da Silva RTB, Maia RE, Kyosen SO, Valle S, Amorim T, Teixeira TB, Prazeres VMG, de Faria Ferraz VE, Schwartz IVD, Alves D, Félix TM, Raras Network Group

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DOI: 10.1007/s12687-026-00939-y
Published: 2026 Sep 15
Container: Journal of community genetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1007/s12687-026-00939-y,
  title = {Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.},
  author = {de Oliveira BM and Broch MS and de Oliveira CP and Piovesana A and Lorea CF and Scortegagna ML and Fighera GZ and Viegas I and Barp LP and Alonso M and Vergara A and Martins AM and Grumach AS and Acosta AX and Ribeiro BFR and Ramos CF and Grangeiro CHP and Kim CA and Melo DG and Michelatto D and Christofolini D and Carvalho EDF and Ribeiro EM and Serpa FS and Brandão FR and Monlleó IL and Oliveira JA and Llerena JC Jr and Donis KC and Giuliani LR and Pinto LLC and da Silva LCS and Costa MCM and Galera MF and Giusti MMCG and Santos MLSF and de Andrade MDFC and Cardoso MTO and Caldato MCF and Pereira NG and Boa Sorte N and de Medeiros PFV and Zen PRG and da Silva RTB and Maia RE and Kyosen SO and Valle S and Amorim T and Teixeira TB and Prazeres VMG and de Faria Ferraz VE and Schwartz IVD and Alves D and Félix TM and Raras Network Group},
  year = {2026},
  journal = {Journal of community genetics},
  doi = {10.1007/s12687-026-00939-y},
  url = {https://doi.org/10.1007/s12687-026-00939-y}
}

RIS

TY  - JOUR
TI  - Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.
AU  - de Oliveira BM
AU  - Broch MS
AU  - de Oliveira CP
AU  - Piovesana A
AU  - Lorea CF
AU  - Scortegagna ML
AU  - Fighera GZ
AU  - Viegas I
AU  - Barp LP
AU  - Alonso M
AU  - Vergara A
AU  - Martins AM
AU  - Grumach AS
AU  - Acosta AX
AU  - Ribeiro BFR
AU  - Ramos CF
AU  - Grangeiro CHP
AU  - Kim CA
AU  - Melo DG
AU  - Michelatto D
AU  - Christofolini D
AU  - Carvalho EDF
AU  - Ribeiro EM
AU  - Serpa FS
AU  - Brandão FR
AU  - Monlleó IL
AU  - Oliveira JA
AU  - Llerena JC Jr
AU  - Donis KC
AU  - Giuliani LR
AU  - Pinto LLC
AU  - da Silva LCS
AU  - Costa MCM
AU  - Galera MF
AU  - Giusti MMCG
AU  - Santos MLSF
AU  - de Andrade MDFC
AU  - Cardoso MTO
AU  - Caldato MCF
AU  - Pereira NG
AU  - Boa Sorte N
AU  - de Medeiros PFV
AU  - Zen PRG
AU  - da Silva RTB
AU  - Maia RE
AU  - Kyosen SO
AU  - Valle S
AU  - Amorim T
AU  - Teixeira TB
AU  - Prazeres VMG
AU  - de Faria Ferraz VE
AU  - Schwartz IVD
AU  - Alves D
AU  - Félix TM
AU  - Raras Network Group
PY  - 2026
JO  - Journal of community genetics
DO  - 10.1007/s12687-026-00939-y
UR  - https://doi.org/10.1007/s12687-026-00939-y
ER  -

APA

BM, D. O., MS, B., CP, D. O., A, P., CF, L., ML, S., GZ, F., I, V., LP, B., M, A., A, V., AM, M., AS, G., AX, A., BFR, R., CF, R., CHP, G., CA, K., DG, M., D, M., D, C., EDF, C., EM, R., FS, S., FR, B., IL, M., JA, O., Jr, L. J., KC, D., LR, G., LLC, P., LCS, D. S., MCM, C., MF, G., MMCG, G., MLSF, S., MDFC, D. A., MTO, C., MCF, C., NG, P., N, B. S., PFV, D. M., PRG, Z., RTB, D. S., RE, M., SO, K., S, V., T, A., TB, T., VMG, P., VE, D. F. F., IVD, S., D, A., TM, F., & Group, R. N. (2026). Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.. Journal of community genetics. https://doi.org/10.1007/s12687-026-00939-y

Source records

pubmed · retrieved 2026-09-25T17:28:26.250Z