Zobrazeno 1 - 10
of 522
pro vyhledávání: '"Kenneson, A"'
Autor:
Rani H. Singh, Marie-Hélène Bourdages, Angela Kurtz, Erin MacLoed, Chelsea Norman, Suzanne Ratko, Sandra C. van Calcar, Aileen Kenneson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals
Externí odkaz:
https://doaj.org/article/08bfb47202c14e21909182c3188a7416
Publikováno v:
Frontiers in Chemical Biology, Vol 3 (2024)
Many novel structural features impart a robust catalase activity to KatG that is absent from all other members of its superfamily. The conformationally dynamic “Arg switch” and oxidizable “proximal Trp” have both figured prominently in invest
Externí odkaz:
https://doaj.org/article/1e593594164a4a88bf9d7505e1a9a9d7
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 39, Iss , Pp 101092- (2024)
Women with phenylketonuria (PKU) should maintain blood phenylalanine (phe) concentration within the recommended range before and during pregnancy to prevent maternal PKU syndrome (MPKUS) in their offspring. Women who gave birth to children with MPKUS
Externí odkaz:
https://doaj.org/article/35f54aed490d4dee9f9f4b20c5e40222
Autor:
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background The web-based GMDI/SERN PKU Nutrition Management Guideline, published before approval of pegvaliase pharmacotherapy, offers guidance for nutrition management of individuals with phenylketonuria (PKU) treated with dietary therapy a
Externí odkaz:
https://doaj.org/article/264e6bcb79a14e2da31c2cdf1bfd4fc6
Autor:
Kenneson, Sarah Ann, Hughes-Visentin, Alexzandra, Wrigley, Jordan, Gujral, Preet, Lodhi, Sumiya, Phadke, Saloni, Rayala, Spandana, Gentica, Xiohara, Malipeddi, Dhatri, Sarvode, Supriya, Kaye, Erica C., Doherty, Megan
Publikováno v:
In Journal of Pain and Symptom Management October 2023 66(4):338-350
Publikováno v:
In Molecular Genetics and Metabolism Reports June 2022 31
Autor:
Kenneson, Aileen, Singh, Rani H.
Publikováno v:
In Molecular Genetics and Metabolism November 2021 134(3):243-249
Publikováno v:
Journal of Primary Care & Community Health, Vol 13 (2022)
Introduction/Objectives: Collectively, genetic diseases are not that rare, and with increasing availability of genetics-informed healthcare management, primary care providers (PCPs) are more often asked to screen for or provide genetic services. Prev
Externí odkaz:
https://doaj.org/article/e8a19bf18c9e448a8f6003c690d0b5c1
Autor:
Kenneson-Adams, Anthony
Publikováno v:
Quality World; Winter2024, Vol. 51 Issue 4, p16-20, 5p
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100865- (2022)
Background: Breast milk is considered the optimal first food for infants. Breastfeeding infants with inherited metabolic disorders (IMDs) is complex due to the critical need to manage intake of specific macronutrients depending on the type of IMD. Ob
Externí odkaz:
https://doaj.org/article/76b8b187993e453b88c5be7205ba5871