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Fabry disease phenotyping in women from the complete Romanian cohort – time for early diagnostic awareness Cover

Fabry disease phenotyping in women from the complete Romanian cohort – time for early diagnostic awareness

Open Access
|Aug 2024

Authors

Adriana Mursă

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Department of Cardiology, Agrippa Ionescu Hospital, Bucharest, Romania
Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases “Prof.dr.C.C.Iliescu”, Bucharest, Romania

Sebastian Militaru

Department of Cardiology, University of Medicine and Pharmacy Craiova, Romania

Elena Rusu

Department of Nephrology, Fundeni Clinical Institute, Bucharest, Romania

Sebastian Onciul

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Emerald Medical Center, Bucharest, Romania

Gabriela Neculae

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases “Prof.dr.C.C.Iliescu”, Bucharest, Romania

Robert Adam

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases “Prof.dr.C.C.Iliescu”, Bucharest, Romania

Lucia Ciobotaru

Department of Nephrology, Fundeni Clinical Institute, Bucharest, Romania

Vlad Stefănescu

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Department of Neurology, Fundeni Clinical Institute, Bucharest, Romania

Adriana Dulămea

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Department of Neurology, Fundeni Clinical Institute, Bucharest, Romania

Viorica Rădoi

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Department of Clinical Genetics, National Institute for Health of Mother and Child “Alessandrescu-Rusescu”, Bucharest, Romania

Bogdan Alexandru Popescu

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases “Prof.dr.C.C.Iliescu”, Bucharest, Romania

Gener Ismail

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Department of Nephrology, Fundeni Clinical Institute, Bucharest, Romania

Ruxandra Jurcuţ

University of Medicine and Pharmacy “Carol Davila ”, Bucharest, Romania
Expert Center for Rare Genetic Cardiovascular Diseases, Emergency Institute for Cardiovascular Diseases “Prof.dr.C.C.Iliescu”, Bucharest, Romania
DOI: https://doi.org/10.2478/rjim-2024-0027 | Journal eISSN: 2501-062X | Journal ISSN: 1220-4749
Language: English
Page range: 414 - 429
Submitted on: May 4, 2024
Published on: Aug 21, 2024
Published by: N.G. Lupu Internal Medicine Foundation
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2024 Adriana Mursă, Sebastian Militaru, Elena Rusu, Sebastian Onciul, Gabriela Neculae, Robert Adam, Lucia Ciobotaru, Vlad Stefănescu, Adriana Dulămea, Viorica Rădoi, Bogdan Alexandru Popescu, Gener Ismail, Ruxandra Jurcuţ, published by N.G. Lupu Internal Medicine Foundation
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.