The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)-Reference-Cited by-同舟云学术

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)

Published:2024-08-19 Issue: Volume: Page:
ISSN:1868-6001
Container-title:Journal of Community Genetics
language:en
Short-container-title:J Community Genet

Author:

Cardoso-dos-Santos Augusto César^ORCID,Mariath Luiza Monteavaro,Trapp Franciele,Facchin Ana Carolina Brusius,Leistner Sandra,Kubaski Francyne,Giugliani Roberto,Schuler-Faccini Lavinia^ORCID,Ribeiro Erlane Marques^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12687-024-00718-7.pdf

Reference50 articles.

1. Araujo TF, Ribeiro EM, Arruda AP, Moreno CA, De Medeiros PFV, Minillo RM, Melo DG, Kim CA, Doriqui MJR, Felix TM, Fock RA, Cavalcanti DP (2016) Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region. Eur J Med Res 21(1):33. https://doi.org/10.1186/s40001-016-0228-7

2. Arruda AP, Cardoso-dos-Santos AC, Mariath LM, Feira MF, Kowalski TW, Bezerra KRF, da Silva LACT, Ribeiro EM, Schuler-Faccini L (2020) A large family with CYLD cutaneous syndrome: medical genetics at the community level. J Community Genet 11(3):279–284. https://doi.org/10.1007/s12687-019-00447-2

3. Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S (2014) The natural history of MPS I: global perspectives from the MPS I Registry. Genet Sci 16(10):759. https://doi.org/10.1038/GIM.2014.25

4. Bonilla C, Sortica VA, Schuler-Faccini L, Matijasevich A, Scheffer MC (2021) Medical genetics workforce in Brazil: practitioners, services, and disease distribution. MedRxiv 2021101421265027. https://doi.org/10.1101/2021.10.14.21265027

5. Brusius-Facchin AC, Siebert M, Leão D, Malaga DR, Pasqualim G, Trapp F, Matte U, Giugliani R, Leistner-Segal S (2019) Phenotype-oriented NGS panels for mucopolysaccharidoses: validation and potential use in the diagnostic flowchart. Genet Mol Biology 42(1):207–214. https://doi.org/10.1590/1678-4685-GMB-2018-0102