Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Adams, Louisa"'
Autor:
Righetti, Sarah, Allcock, Richard J. N., Yaplito-Lee, Joy, Adams, Louisa, Ellaway, Carolyn, Jones, Kristi J., Selvanathan, Arthavan, Fletcher, Janice, Pitt, James, van Kuilenburg, André B. P., Delatycki, Martin B., Laing, Nigel G., Kirk, Edwin P.
Publikováno v:
Molecular genetics and metabolism, 137(1-2), 62-67. Academic Press Inc.
Background: Beta-ureidopropionase deficiency, caused by variants in UPB1, has been reported in association with various neurodevelopmental phenotypes including intellectual disability, seizures and autism. Aim: We aimed to reassess the relationship b
Autor:
Adams, Louisa, Selvanathan, Arthavan, Batten, Kiera J., van Doorn, Nancy, Thompson, Susan, Mitchell, Ashleigh, Sampaio, Hugo, Dalkeith, Troy, Russell, Jacqui, Ellaway, Carolyn J., Farrar, Michelle, Broderick, Carolyn, Bhattacharya, Kaustuv
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Sep2023, Vol. 64 Issue 5, p327-336, 10p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE
Autor:
Selvanathan, Arthavan, Hertzog, Ashley, Ellaway, Carolyn, Lewis, Katherine, Lichkus, Kate, Adams, Louisa, Bhattacharya, Kaustuv, Tolun, Adviye
Publikováno v:
In Molecular Genetics and Metabolism March 2023 138(3)
Autor:
Williams, Hywel C., McPhee, Margaret J., Layfield, Carron P., Jones, Stephen, Layfield, Carron, Matin, Rubeta, Levell, Nick, Cowdell, Fiona, Burton, Tim, Adams, Louisa May, Frankel, Jez, Thomas, Kim, Perera, Gayathri, Sommerlad, Mary, Charman, Carolyn, Worboys, Sarah, Young, Helen, Belmo, Sharon, Sach, Tracey, Bradshaw, Lucy
Publikováno v:
Clinical & Experimental Dermatology; Jun2022, Vol. 47 Issue 6, p1048-1059, 12p, 1 Color Photograph, 2 Diagrams, 5 Charts
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Monroe, James, Adams, John Quincy, Adams, Louisa C., Jackson, Andrew, Jackson, Rachel, Van Buren, M., Harrison, W. H., Harrison, Anna, Tyler, John, Tyler, Julia Gardiner, Polk, James K., Polk, Taylor, Z., Bliss, Betty T.
Publikováno v:
The Pennsylvania Magazine of History and Biography, 1901 Jan 01. 25(4), 527-536.
Externí odkaz:
https://www.jstor.org/stable/20085998
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Adams L; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia., Selvanathan A; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia., Batten KJ; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; School of Health Sciences University of New South Wales Sydney Australia., van Doorn N; School of Health Sciences University of New South Wales Sydney Australia.; Children's Institute of Sports Medicine Children's Hospital at Westmead Westmead Australia., Thompson S; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; Faculty of Medicine and Health, Westmead Campus University of Sydney Westmead Australia., Mitchell A; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia., Sampaio H; Discipline of Paediatrics, School of Women's and Children's Health UNSW Medicine Sydney Australia.; Department of Neurology Sydney Children's Hospital Randwick Randwick Australia., Dalkeith T; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; Faculty of Medicine and Health, Westmead Campus University of Sydney Westmead Australia., Russell J; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; Department of Neurology Sydney Children's Hospital Randwick Randwick Australia., Ellaway CJ; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; Faculty of Medicine and Health, Westmead Campus University of Sydney Westmead Australia., Farrar M; Discipline of Paediatrics, School of Women's and Children's Health UNSW Medicine Sydney Australia.; Department of Neurology Sydney Children's Hospital Randwick Randwick Australia., Broderick C; School of Health Sciences University of New South Wales Sydney Australia.; Children's Institute of Sports Medicine Children's Hospital at Westmead Westmead Australia., Bhattacharya K; Genetic Metabolic Disorders Service Sydney Children's Hospitals' Network (Randwick and Westmead) Sydney Australia.; Faculty of Medicine and Health, Westmead Campus University of Sydney Westmead Australia.; Discipline of Paediatrics, School of Women's and Children's Health UNSW Medicine Sydney Australia.
Publikováno v:
JIMD reports [JIMD Rep] 2023 Aug 09; Vol. 64 (5), pp. 327-336. Date of Electronic Publication: 2023 Aug 09 (Print Publication: 2023).