Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Birgitte R. Diness"'
Autor:
Bitten Schönewolf-Greulich, Helena Gásdal Karstensen, Tina D. Hjortshøj, Finn Stener Jørgensen, Katja M. Harder, Susanne Frevert, Hanne Hove, Birgitte R. Diness
Publikováno v:
Schönewolf-Greulich, B, Karstensen, H G, Hjortshøj, T D, Jørgensen, F S, Harder, K M, Frevert, S, Hove, H & Diness, B R 2022, ' Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth ', European Journal of Medical Genetics, vol. 65, no. 10, 104590 . https://doi.org/10.1016/j.ejmg.2022.104590
Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a promising treatme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fdd9e559520fcfeae9c0decd711ebbb
https://curis.ku.dk/portal/da/publications/early-diagnosis-enabling-precision-medicine-treatment-in-a-young-boy-with-pik3r1related-overgrowth(c2f110d8-2f98-433a-9812-4100100e48a6).html
https://curis.ku.dk/portal/da/publications/early-diagnosis-enabling-precision-medicine-treatment-in-a-young-boy-with-pik3r1related-overgrowth(c2f110d8-2f98-433a-9812-4100100e48a6).html
Publikováno v:
The American Journal of Cardiology. 91:982-985
30 (22%) 24 (27%) 0.357 Total cholesterol (mmol/L) 5.5 1.0 5.6 1.0 0.689 LDL cholesterol (mmol/L) 3.7 0.9 3.7 0.9 0.938 Triglycerides (mmol/L) 1.7 0.9 1.6 0.8 0.405 Smokers Current or former 116 (85%) 60 (68%) Never 21 (15%) 28 (32%) 0.003 Body mass