Prader-Willi syndrome: care of adults in general practice
Background: Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity
Scheermeyer, Elly
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Child with genetically confirmed Prader-Willi syndrome. [PDF]
Kahssay MG, Oyieke K, Hoybye C.
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Placental defects revealed by modelling Prader-Willi syndrome in mice. [PDF]
Webberley AE +12 more
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Validation of the Q87.11 ICD Code for Prader-Willi Syndrome. [PDF]
Luccarelli J, Strong TV, McCoy TH.
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Role of Snord116 in pituitary growth hormone deficiency of Prader-Willi syndrome. [PDF]
Batzli GF +6 more
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Challenges in managing endocrine and metabolic dysfunction in a child with Prader-Willi syndrome and medulloblastoma. [PDF]
Chan D, Katugampola H, Dattani MT.
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Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome. [PDF]
Li S, Yu J, Wei J, Liang M, Liang M.
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Practical guidelines for children with Prader-Willi Syndrome
Although Prader-Willi syndrome is a rare disease, it provides an excellent example of how early diagnosis and meticulous management can significantly improve long-term prognosis of some genetic diseases.
Tornese G, Pastore S, Tonini G.
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Efficacy and safety of semaglutide for obesity and hyperphagia in adults with Prader-Willi syndrome. [PDF]
Ahmed S, Bridges N, Goldstone AP.
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Altered neural electrophysiological properties in the anterior cingulate cortex in a mouse model of Prader-Willi syndrome. [PDF]
Rybalchenko V, Butler R.
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