Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Mary Anne Preece"'
Autor:
Nathan W. P. Cantley, Robert Barski, Helena Kemp, Sarah L. Hogg, Hoi Yee Teresa Wu, Ann Bowron, Catherine Collingwood, Jennifer Cundick, Claire Hart, Lynette Shakespeare, Mary Anne Preece, Helen Aitkenhead, Sarah Smith, Rachel S. Carling, Stuart J. Moat
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 2 (2023)
In the UK, Classical Galactosaemia (CG) is identified incidentally from the Newborn Screening (NBS) for phenylketonuria (PKU) using an “Other disorder suspected” (ODS) pathway when phenylalanine (Phe) and tyrosine (Tyr) concentrations are increas
Externí odkaz:
https://doaj.org/article/79260bb016c04c578835f77e03d5ce0a
Autor:
Subadra Wanninayake, Charlotte Dawson, Tarekegn Geberhiwot, Antonio Ochoa-Ferraro, Adam Gerrard, Mary Anne Preece
Publikováno v:
European Stroke Journal. 6:420-427
Background Cerebral venous thrombosis (CVT) is an important cause of stroke particularly in younger patients and potentially fatal if diagnosis is delayed. The presentation of symptoms is highly variable and consequently the diagnosis and underlying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d0c27bc313384fedebca2504d81a0b
https://doi.org/10.1177/23969873211059479
https://doi.org/10.1177/23969873211059479
Autor:
Mary Anne Preece, Meranthi Fernando, Saikat Santra, Suresh Vijay, Rachel M. Brown, Astor Rodrigues, Girish Gupte
Publikováno v:
Euroasian Journal of Hepato-Gastroenterology
Background Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c51c6a2e747cf18dcfc772f93cd29a
https://doi.org/10.5005/jp-journals-10018-1351
https://doi.org/10.5005/jp-journals-10018-1351
Autor:
Russell Denmeade, Suma Uday, Philippa Goddard, William D. Fraser, Jonathan Tang, Jamie Large, Sunia Naseem, Wolfgang Högler, Rachel Dunn, Mary Anne Preece
Publikováno v:
Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59ded02370be6f49d9021284951603a3
https://doi.org/10.1136/archdischild-2021-rcpch.184
https://doi.org/10.1136/archdischild-2021-rcpch.184
Autor:
Julian Raiman, Mary Anne Preece, Saikat Santra, Tim Hutchin, Suresh Vijay, G Shortland, Srividya Sreekantam, Adam Gerrard
Publikováno v:
British inherited metabolic disease group.
Aim To describe the clinical course of children in whom the diagnosis of an underlying metabolic disorder was delayed due to a failure of obtaining urine for organic acid analysis at the time of initial presentation with hypoglycaemia and/or lactic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ddbc84123433162593621b2dbee9c22
https://doi.org/10.1136/archdischild-2020-rcpch.405
https://doi.org/10.1136/archdischild-2020-rcpch.405
Autor:
Mary Anne Preece, Sunia Naseem, Rachel Dunn, Philippa Goddard, William D. Fraser, Suma Uday, Jonathan Tang, Jamie Large, Wolfgang Högler, Russell Denmeade
Publikováno v:
Clinical nutrition (Edinburgh, Scotland). 40(5)
Objectives: To determine the prevalence of vitamin D deficiency on dried blood spots (DBS) obtained at newborn bloodspot screening (NBS) and thereby test the efficacy of the UK national antenatal supplementation programme in an increasingly ethnicall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add384e1f1b1666562e1818aad0ac6cb
https://pubmed.ncbi.nlm.nih.gov/33358424
https://pubmed.ncbi.nlm.nih.gov/33358424
Autor:
Anne Daly, Adam Gerrard, Suresh Vijay, Catherine Ashmore, Saikat Santra, Mary Anne Preece, Sharon Evans, Rachel Webster, Anita MacDonald, Matthew Whitlock, Anupam Chakrapani
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 31:297-304
Background: Children with long-chain fatty acid β-oxidation disorders (LCFAOD) presenting with clinical symptoms are treated with a specialist infant formula, with medium chain triglyceride (MCT) mainly replacing long chain triglyceride (LCT). It is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c75d028e1133e2545a90fab3938ccb29
https://doi.org/10.1515/jpem-2017-0426
https://doi.org/10.1515/jpem-2017-0426
Autor:
Janet Koster, Merel S. Ebberink, Hans R. Waterham, Simone Denis, Carlo W.T. van Roermund, Ronald J.A. Wanders, Sacha Ferdinandusse, Mary Anne Preece
Publikováno v:
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1864(3), 952-958. Elsevier
Peroxisomal acyl-CoA oxidases catalyze the first step of beta-oxidation of a variety of substrates broken down in the peroxisome. These include the CoA-esters of very long-chain fatty acids, branched-chain fatty acids and the C27-bile acid intermedia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca3b82bdcf5733c58f3e6606b7ebfa87
https://doi.org/10.1016/j.bbadis.2017.12.032
https://doi.org/10.1016/j.bbadis.2017.12.032
Publikováno v:
BRITISH SOCIETY FOR PAEDIATRIC ENDOCRINOLOGY AND DIABETES.
Aims The UK newborn screening program facilitates early identification and treatment of Congenital Hypothyroidism (CHT) to prevent neurodevelopmental defects. This study audited practice and outcome data from a regional tertiary centre (RTC) over a 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a34927961f8b3acb6b3b0a6c894aee4e
https://doi.org/10.1136/archdischild-2019-rcpch.567
https://doi.org/10.1136/archdischild-2019-rcpch.567
Publikováno v:
Archives of disease in childhood - Education & practice edition. 102:28-36
Controlled fasts can play a valuable role in the diagnosis and management of hypoglycaemia in paediatric clinical practice, but are no substitute for the collecting of appropriate critical samples at the time of hypoglycaemia for metabolic and endocr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d87b9ca1ecbff67c4f17f843f8386d98
https://doi.org/10.1136/archdischild-2015-308702
https://doi.org/10.1136/archdischild-2015-308702