Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Patricia Hirano"'
Autor:
Theresa V. Strong, Jennifer L. Miller, Shawn E. McCandless, Evelien Gevers, Jack A. Yanovski, Lisa Matesevac, Jessica Bohonowych, Shaila Ballal, Kristen Yen, Patricia Hirano, Neil M. Cowen, Anish Bhatnagar
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-9 (2024)
Abstract Background Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficult
Externí odkaz:
https://doaj.org/article/f5daf70833c04bcc97d36ae2f517d1a7
Autor:
Jennifer Abuzzahab, Moris Angulo, Lynne Bird, Merlin Butler, Neil Cowen, Evelien Gevers, Anthony Goldstone, Patricia Hirano, Laura Konczal, Melissa Lah, Verghese Mathew, Jorge Mejia Corletto, Jennifer Miller, Kathryn Obrynba, Parisa Salehi, M Guftar Shaikh, Ashley Shoemaker, David Stevenson, David Viskochil, John Wilding, Michael Woloschak, Jack Yanovski, Eric Felner
Publikováno v:
Journal of the Endocrine Society. 6:A15-A16
Background Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental condition, characterized by hyperphagia, obesity, hormone deficiencies and behavioral/psychological manifestations. DCCR is under investigation as a treatment for hyperphagia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::652486a30fad58c96be72f06bf539e09
https://doi.org/10.1210/jendso/bvac150.032
https://doi.org/10.1210/jendso/bvac150.032
Publikováno v:
Journal of the Endocrine Society
Background: Prader-Willi syndrome (PWS) is a rare, complex, multisystem disorder caused by the loss of multiple paternally expressed genes on chromosome 15q11-13 and is present in 1/15,000-30,000 individuals. Characteristics of PWS include low muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77fd8cf8efc5174db4da0ff56bb72871
https://doi.org/10.1210/jendso/bvab048.1452
https://doi.org/10.1210/jendso/bvab048.1452