Assessment of combined α-GAL enzyme activity and lyso-GL3 for Fabry disease screening in women with chronic kidney disease
This study contributes to the diagnostic value of the biomarkers α-GAL and lyso-GL3 in the context of FD in women with CKD. The combination of these biomarkers was an effective approach for the diagnosis of the disease, with high PPV and NPV.
Authors
- Leandro Júnior Lucca (ORCID: https://orcid.org/0000-0001-8236-637X)
- Karla Cristina Petruccelli Israel (ORCID: https://orcid.org/0000-0002-5891-4097)
- Felipe Leite Guedes (ORCID: https://orcid.org/0000-0002-8348-0323)
- Roberta Correa Pascotto
- Luís Gustavo Modelli de Andrade (ORCID: https://orcid.org/0000-0002-0230-0766)
- Cassiano Augusto Braga Silva (ORCID: https://orcid.org/0000-0002-7126-5028)
- Valéria Soares Pigozzi Veloso
- Ana Paula Santana Gueiros (ORCID: https://orcid.org/0000-0003-3386-8650)
- Osvaldo Merege Vieira Neto
- Maria Gabriela Rosa
- Marta V. Boger
- Gelzie S. Ennes
- Fellype Carvalho Barreto (ORCID: https://orcid.org/0000-0002-6394-9227)
- Gabriela Sevignani (ORCID: https://orcid.org/0000-0002-5239-8984)
- Márcia Gonçalves Ribeiro (ORCID: https://orcid.org/0000-0001-8906-0189)
- Artur Quintiliano Silva
- Carolina Teles Barretto
- Gina Elizabeth Moreno Gordon
- Fernando A. Vieira
- Eduarda Morgana da Silva Montenegro Malaguti Souza
Institutions
- Universidade Federal do Rio de Janeiro (BR)
- Universidade Estadual de Maringá (BR)
- Universidade de Ribeirão Preto (BR)
- Universidade de São Paulo (BR)
- Universidade Federal do Rio Grande do Norte (BR)
- Centro Universitário de Caratinga (BR)
- Instituto de Medicina Integral Professor Fernando Figueira (BR)
- Faculdade de Medicina de Jundiaí (BR)
- Hospital do Rim e Hipertensão (BR)
- Universidade Federal do Paraná (BR)
- Universidade Federal do Amazonas (BR)
- Universidade Federal de Goiás (BR)
- Universidade Estadual Paulista (Unesp) (BR)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1016/j.ymgme.2024.108565
- Citations
- 2
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.65