The Rare Diseases Issue

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DOI:

https://doi.org/10.24950/rspmi.644

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References

Haendel M, Vasilevsky N, Unni D, Bologa C, Harris N, Rehm H, et al How many rare diseases are there? Rev Drug Discov. 2020; 19: 77–8. doi: 10.1038/d41573-019-00180-y

Orphanet. Epidemiology of rare diseases in Orphanet - Prevalence, incidence and number of published cases or families; 2019.[consultado Maio 2022] Disponível em: https://www.orpha.net/consor/cgi-bin/index.php

Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020; 28: 165–73. doi: 10.1038/s41431-019-0508-0

Martins R, Baptista P, Rocha S, Guimas A, Ribeiro R. Osteogénese Inperfeita Em Adultos - A Experiência de um Centro Hospitalar. Rev Soc Port Med Interna. 2022;29:120-7. doi: 10.24950/rspmi.631

Sá A, Oliveira N. Doença de Gaucher e Terapêutica Enzimática de Substituição: Casuística de um Serviço. Rev Soc Port Med Interna. 2022;29: 89-94. doi: 10.24950/respmi.632

Guillot P. Stem cell & gene therapy to treat osteogenesis imperfecta: hype or hope; 2021. [consultado Maio 2022] Disponível em: https://www.openaccessgovernment.org/stem-cell-gene-therapy-to-treat-osteogenesis-imperfecta-hype-or-hope/121568/

Besia R, Forlino A. New frontiers for dominant osteogenesis imperfecta treatment: gene/cellular therapy approaches. Adv Regen Biol 2015;2:1-9. doi:10.3402/arb.v2.27964

Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int J Mol Sci. 2017;18:441. doi: 10.3390/ijms18020441.

Sociedade Portuguesa de Medicina Interna. Núcleo de Estudos de Doenças Raras (NEDR) da Sociedade Portuguesa de Medicina Interna 2020 [consultado Maio 2022] Disponível em: https://www.spmi.pt/nucleo-estudos-doencas-raras/#atividades-nucleo

Published

2022-06-23

How to Cite

1.
Sá J. The Rare Diseases Issue. RPMI [Internet]. 2022 Jun. 23 [cited 2024 Dec. 18];29(2):82-3. Available from: https://revista.spmi.pt/index.php/rpmi/article/view/644

Issue

Section

Editorial