Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood‐testis barrier and a subtherapeutic effect of cysteamine in testis

Cystinosis is an inherited metabolic disorder caused by autosomal recessive mutations in the CTNS gene leading to lysosomal cystine accumulation. The disease primarily affects the kidneys followed by extra‐renal organ involvement later in life. Azoospermia is one of the unclarified complications whi...

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Detalles Bibliográficos
Autores principales: Reda, Ahmed, Veys, Koenraad, Kadam, Prashant, Taranta, Anna, Rega, Laura Rita, Goffredo, Bianca M., Camps, Chelsea, Besouw, Martine, Cyr, Daniel, Albersen, Maarten, Spiessens, Carl, de Wever, Liesbeth, Hamer, Robert, Janssen, Mirian C.H., D'Hauwers, Kathleen, Wetzels, Alex, Monnens, Leo, van den Heuvel, Lambertus, Goossens, Ellen, Levtchenko, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291572/
https://www.ncbi.nlm.nih.gov/pubmed/34494673
http://dx.doi.org/10.1002/jimd.12434

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