Zobrazeno 1 - 10
of 1 780
pro vyhledávání: '"J. Moat"'
Autor:
Stuart J. Moat, James R. Bonham, Christine Cavanagh, Margaret Birch, Caroline Griffith, Lynette Shakespeare, Clare Le Masurier, Claire Manfredonia, Beverly Hird, Philippa Goddard, Sarah Smith, Laura Wainwright, Rachel S. Carling, Jennifer Cundick, Fiona Jenkinson, Catherine Collingwood, Nick Flynn, Nazia Taj, Mehdi Mirzazadeh, Tejswurree Ramgoolam, Liz Robinson, Amy Headley, Tessa Morgan, David Elliman, Lesley Tetlow
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 3, p 60 (2024)
In 2015, U.K. newborn screening (NBS) laboratory guidelines were introduced to standardize dried blood spot (DBS) specimen quality acceptance and specify a minimum acceptable DBS diameter of ≥7 mm. The UK ‘acceptable’ avoidable repeat rate (AVR
Externí odkaz:
https://doaj.org/article/e1869e2c554c441f999c02d26ed790dd
Autor:
Rachel S. Carling, Zoe Barclay, Nathan Cantley, Erin C. Emmett, Sarah L. Hogg, Yael Finezilber, Danja Schulenburg‐Brand, Elaine Murphy, Stuart J. Moat
Publikováno v:
JIMD Reports, Vol 64, Iss 6, Pp 468-476 (2023)
Abstract Measurement of plasma and dried blood spot (DBS) phenylalanine (Phe) is key to monitoring patients with phenylketonuria (PKU). The relationship between plasma and capillary DBS Phe concentrations has been investigated previously, however, di
Externí odkaz:
https://doaj.org/article/a601184a46e343198b164355d78c914c
Autor:
Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 24 (2024)
Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 t
Externí odkaz:
https://doaj.org/article/871fb498534349d08dd2216dbad7b8be
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:
David J. McBride, Claire Fielding, Taksina Newington, Alexandra Vatsiou, Harry Fischl, Maya Bajracharya, Vicki S. Thomson, Louise J. Fraser, Pauline A. Fujita, Jennifer Becq, Zoya Kingsbury, Mark T. Ross, Stuart J. Moat, Sian Morgan
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 52 (2023)
The collection of dried blood spots (DBS) facilitates newborn screening for a variety of rare, but very serious conditions in healthcare systems around the world. Sub-punches of varying sizes (1.5–6 mm) can be taken from DBS specimens to use as inp
Externí odkaz:
https://doaj.org/article/1d0d217ac1d54d599cdda8b46aabf21d
Autor:
Nielsen, I. C.
Publikováno v:
Kew Bulletin, 2003 Jan 01. 58(1), 174-174.
Externí odkaz:
https://www.jstor.org/stable/4119359
Autor:
Stuart J. Moat, Sharon Hillier, Sikha de Souza, Malorie Perry, Simon Cottrell, Alex Lench, Heather Payne, Stephen Jolles
Publikováno v:
Human Vaccines & Immunotherapeutics, Vol 18, Iss 5 (2022)
SARS-CoV-2 vaccine uptake in pregnant women is believed to be low and lags behind the general population contributing to increased hospital admissions, and poor maternal and fetal outcomes. However, there is a paucity of information on the SARS-CoV-2
Externí odkaz:
https://doaj.org/article/3b5a4a3c07824aeabffa02471abe380d
Autor:
Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 1, p 15 (2023)
In 1963, Robert Guthrie’s pioneering work developing a bacterial inhibition assay to measure phenylalanine in dried blood spots, provided the means for whole-population screening to detect phenylketonuria in the USA. In the following decades, NBS b
Externí odkaz:
https://doaj.org/article/ea474028af7b4a3683053a2f5ddc81ff
Publikováno v:
Clinical Nutrition ESPEN. 55:425-427
Autor:
Sarah L Hogg, Rachel S Carling, Nathan WP Cantley, Gillian Hamilton, Philippa Goddard, Helen Aitkenhead, Robert Barski, Catherine Collingwood, Stuart J Moat, Helena J Kemp
Publikováno v:
Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 60:208-211
Background Sapropterin has been approved as a treatment option for individuals with Phenylketonuria in the United Kingdom. Individuals are assessed as responsive to Sapropterin by a ≥30% reduction in Phenylalanine (Phe) concentrations using dried b