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Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders

Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the discovery of these conditions, the potential for treatment wi...

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Detalles Bibliográficos
Autores principales: Michael, Julianne, VanSickle, Elizabeth, Vipond, Marlie, Dalman, Abby, Prokop, Jeremy, Schwartz, Charles E., Rajasekaran, Surender, Bachmann, André S., Barth, Magalie, Prouteau, Clément, Almagor, Yotam, Berkun, Lina, Alterescu, Gheona, Bupp, Caleb P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123676/
https://www.ncbi.nlm.nih.gov/pubmed/37092498
http://dx.doi.org/10.3390/medsci11020029