Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France

OBJECTIVES: To examine the changes in diagnostic practices and clinical management of patients with 5α-reductase type 2 (SRD5A2) or 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency since molecular diagnoses became available. METHODS: Clinical, laboratory, and therapeutic data were retrie...

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Detalles Bibliográficos
Autores principales: Bonnet, Estelle, Winter, Mathias, Mallet, Delphine, Plotton, Ingrid, Bouvattier, Claire, Cartigny, Maryse, Martinerie, Laetiti, Polak, Michel, Bachelot, Anne, Huet, Frédéric, Baron, Sabine, Houang, Muriel, Soskin, Sylvie, Lienhardt, Anne, Bertherat, Jérôme, Amouroux, Cyril, Bouty, Aurore, Duranteau, Lise, Besson, Rémi, El Ghoneimi, Alaa, Samara-Boustani, Dinane, Becmeur, François, Kalfa, Nicolas, Paris, Françoise, Medjkane, François, Brac de la Perrière, Aude, Bretones, Patricia, Lejeune, Hervé, Nicolino, Marc, Mouriquand, Pierre, Gorduza, Daniela-Brindusa, Gay, Claire-Lise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986397/
https://www.ncbi.nlm.nih.gov/pubmed/36606580
http://dx.doi.org/10.1530/EC-22-0227

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