Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Oliver Heath"'
Autor:
Oliver Heath, Brooke Allender, Joel Smith, Elena Savva, Lucy Spencer, Elizabeth G. Bannister, Natasha J. Brown, Maureen S. Evans, Sharmila Kiss, Thomas H. Rozen, Joy Yaplito‐Lee
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 239-248 (2024)
Abstract Familial chylomicronemia syndrome (FCS) is a rare disorder of triglyceride (TG) metabolism caused by loss of function variants in one of five known canonical genes involved in chylomicron lipolysis and clearance—LPL, APOC2, APOA5, LMF1, an
Externí odkaz:
https://doaj.org/article/e0ae9d872ca24a4b99aab791f4a1c2dc
Autor:
Oliver Heath, Dinusha Pandithan, James Pitt, Elena Savva, Laura Raiti, Jenny Bracken, Moya Vandeleur, Martin B. Delatycki, Joy Yaplito‐Lee, Winita Hardikar, Rebecca Halligan
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 337-345 (2023)
Abstract Contiguous ABCD1/ DXS1357E deletion syndrome (CADDS) is a rare deletion syndrome involving two contiguous genes on Xq28, ABCD1 and BCAP31 (formerly known as DXS1357E). Only nine individuals with this diagnosis have been reported in the medic
Externí odkaz:
https://doaj.org/article/c3de6f8578104d98b093177a3ac08883
Publikováno v:
Journal of Personalized Medicine, Vol 14, Iss 5, p 523 (2024)
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty and consider
Externí odkaz:
https://doaj.org/article/39d364a5b64e41889a3bbe8f68f8770a
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
Abstract Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most c
Externí odkaz:
https://doaj.org/article/df2e74638e0841458165745a0241ed55
Autor:
Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 2, p 986 (2022)
Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-residing protein and is reported to regulate mitochondrial function. The clinical importance of PYROXD2 has been unclear,
Externí odkaz:
https://doaj.org/article/2dffd05d7a9647acb67ffc154289bf7f
Publikováno v:
Clinical Chemistry and Laboratory Medicine (CCLM). 60:1855-1858
Objectives Urine free sialic acid (UFSA) is an important diagnostic biomarker for sialuria (GNE variants) and infantile sialic acid storage disease/Salla disease (SLC17A5 variants). Traditionally, UFSA has been measured using specific single-plex met
Autor:
Rosie Campbell, Oliver Heath
Publikováno v:
Political Behavior. 43:1707-1729
Although populist leaders often employ an anti-elite discourse which presents the elite as unable or unwilling to represent ordinary citizens, we know very little about who elites actually think should be represented, or how this differs, if at, all
Publikováno v:
Cities & Health. 6:898-905
This article is a summary of ‘Creating Positive Spaces by Designing for Community’ in which we present research on the psychological benefits of a sense of community and how these benefits can be h...
Publikováno v:
JIMD Reports. 58:3-11
Vitamin B6-dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal-5'-phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of these dis
Publikováno v:
JIMD Reports
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)
Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of t