Zobrazeno 1 - 10
of 232
pro vyhledávání: '"Bridget, Wilcken"'
Autor:
Arthavan Selvanathan, Jane Kinsella, Francesca Moore, Robert Wynn, Simon Jones, Peter J. Shaw, Bridget Wilcken, Kaustuv Bhattacharya
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 3-11 (2021)
Abstract Aspartylglucosaminuria (AGU) (OMIM #208400) is a recessively inherited disorder of glycoprotein catabolism, a subset of the lysosomal storage disorders (LSDs). Deficiency of the enzyme glycosylasparaginase (E.C. 3.5.1.26) leads to accumulati
Externí odkaz:
https://doaj.org/article/3767fcb1821f4f51af28d77354e8df76
Publikováno v:
Journal of Eating Disorders, Vol 9, Iss 1, Pp 1-3 (2021)
Abstract Anorexia nervosa is a severe and complex illness associated with a lack of efficacious treatment. The effects of nutrition on the brain and behaviour is of particular interest, though an area of limited research. Tyrosine, a non-essential am
Externí odkaz:
https://doaj.org/article/985d24f365394054af37036bd51a3170
Autor:
Veronica Wiley, Michelle M Jack, Bridget Wilcken, Natasha Nassar, Andrew J. Martin, Samantha J. Lain
Publikováno v:
European Journal of Pediatrics. 180:1073-1080
Untreated severe newborn thyroid deficiency causes neurocognitive impairment; however, the impact of mild thyroid deficiency is not known. This study aimed to examine whether mildly elevated neonatal thyroid-stimulating hormone (TSH) levels are assoc
Autor:
Bridget Wilcken
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 3, p 21 (2018)
Newborn screening for several lysosomal disorders can now be accomplished successfully for case finding. However, many cases identified do not require immediate intervention and it is not yet clear, for some disorders, if there is a benefit in early
Externí odkaz:
https://doaj.org/article/00e6b1bf11034c8aa7d0637cb6c7540d
Autor:
Tiffany Wotton, Veronica Wiley, Bruce Bennetts, Louise Christie, Bridget Wilcken, Gemma Jenkins, Carolyn Rogers, Jackie Boyle, Michael Field
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 9 (2018)
Fragile X syndrome (FXS) is the most prevalent heritable cause of cognitive impairment but is not yet included in a newborn screening (NBS) program within Australia. This paper aims to assess the feasibility and reliability of population screening fo
Externí odkaz:
https://doaj.org/article/63d3a0019aca4329a6125469f294ebf6
Publikováno v:
Journal of Eating Disorders
Journal of Eating Disorders, Vol 9, Iss 1, Pp 1-3 (2021)
Journal of Eating Disorders, Vol 9, Iss 1, Pp 1-3 (2021)
Anorexia nervosa is a severe and complex illness associated with a lack of efficacious treatment. The effects of nutrition on the brain and behaviour is of particular interest, though an area of limited research. Tyrosine, a non-essential amino acid,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::894c164c251fa2b6d8d9f1b3cf5bfff7
https://hdl.handle.net/10453/152301
https://hdl.handle.net/10453/152301
Background: Anorexia nervosa is a severe and complex illness associated with a lack of efficacious treatment. Ongoing tyrosine administration has been proposed as a possible treatment through increasing blood tyrosine sufficiently to facilitate brain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd2dfee1510468cb5b2680675c6244fd
https://doi.org/10.21203/rs.3.rs-334961/v1
https://doi.org/10.21203/rs.3.rs-334961/v1
Autor:
Samantha J, Lain, Veronica, Wiley, Michelle, Jack, Andrew J, Martin, Bridget, Wilcken, Natasha, Nassar
Publikováno v:
European journal of pediatrics. 180(4)
Untreated severe newborn thyroid deficiency causes neurocognitive impairment; however, the impact of mild thyroid deficiency is not known. This study aimed to examine whether mildly elevated neonatal thyroid-stimulating hormone (TSH) levels are assoc
Autor:
Bridget Wilcken
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 42(5)
Autor:
George A. Marshall, Jason Pinner, Chee Y. Ooi, Michael J. Bamshad, John A. Duley, M. Henman, Kevin Carpenter, Bridget Wilcken
Publikováno v:
Molecular Genetics and Metabolism. 119:83-90
Background Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been sh