Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Rodney J. Pollitt"'
Autor:
Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 1, p 2 (2017)
Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pat
Externí odkaz:
https://doaj.org/article/b8698ab65b934b559c33cf4ea396d746
Autor:
Rodney J. Pollitt
Publikováno v:
International Journal of Neonatal Screening, Vol 2, Iss 1, p 1 (2016)
The challenges inherent in many newborn screening programmes for medium-chain acyl-CoA dehydrogenase deficiency could be overcome by better use of the available second-line tests. Application of “next generation” technologies could minimize many
Externí odkaz:
https://doaj.org/article/a0dbed657a55483abf5d8d6ee56dc219
Autor:
Rodney J Pollitt
Publikováno v:
Archives of Disease in Childhood. 101:120-123
Newborn screening for congenital hypothyroidism (CHT) is generally regarded as a highly successful public health measure. It was officially added to the UK newborn screening programme for phenylketonuria in 19811 though many areas had already started
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02047c6444e63db3355d7f2cc41020e
https://doi.org/10.1136/archdischild-2015-309546
https://doi.org/10.1136/archdischild-2015-309546
Autor:
Rodney J. Pollitt
Publikováno v:
Journal of Medical Biochemistry, Vol 34, Iss 1, Pp 18-22 (2014)
Kratak sadraj: Testiranje uzoraka krvi iz pete kod novo - ro|en~adi radi otkrivanja potencijalno izle~ivih bolesti pri me - njuje se {irom planete. Me|utim, prakse testiranja se umno- gome razlikuju, kako u pogledu poreme}aja koji se mogu otkriti, te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d99af9139b83af42985668478032715e
http://www.degruyter.com/view/j/jomb.2015.34.issue-1/jomb-2014-0040/jomb-2014-0040.xml?format=INT
http://www.degruyter.com/view/j/jomb.2015.34.issue-1/jomb-2014-0040/jomb-2014-0040.xml?format=INT
Publikováno v:
Applied Health Economics and Health Policy. 8:407-420
Inborn errors of metabolism (IEM) are a significant cause of morbidity and mortality in North Africa and the Middle East. With the evident success of neighbouring countries in initiating neonatal screening for IEM, the Libyan Authorities are now cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a37f82edf49070ce2c234b5c87eeb9
https://doi.org/10.2165/11535530-000000000-00000
https://doi.org/10.2165/11535530-000000000-00000
Autor:
Rodney J. Pollitt
Publikováno v:
Acta Paediatrica. 99:1766-1772
UNLABELLED The potential of newborn blood-spot screening is expanding rapidly with the development of new analytical techniques and treatment methods. At the same time, some existing programmes, particularly that for congenital hypothyroidism, are co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd458ac3d165f3f77a0aa992d4b59ec4
https://doi.org/10.1111/j.1651-2227.2010.01950.x
https://doi.org/10.1111/j.1651-2227.2010.01950.x
Publikováno v:
Applied Health Economics and Health Policy. 8(6):407-420
Background: Inborn errors of metabolism (IEM) are a significant cause of morbidity and mortality in North Africa and the Middle East. With the evident success of neighbouring countries in initiating neonatal screening for IEM, the Libyan Authorities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______645::5d686f9d872341f4c8e6e98b15a556e7
http://healtheconomics.adisonline.com/pt/re/ahe/pdfhandler.00148365-201008060-00008.pdf
http://healtheconomics.adisonline.com/pt/re/ahe/pdfhandler.00148365-201008060-00008.pdf
Autor:
Rodney J. Pollitt
Publikováno v:
Journal of Inherited Metabolic Disease. 32:395-399
Newborn screening is evolving very rapidly. Geographical coverage is expanding, particularly for common disorders such as congenital hypothyroidism. New technologies, particularly tandem mass spectrometry and high throughput mutation analysis, have i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e14d00cd80abc07e6cce046e2be6303a
https://doi.org/10.1007/s10545-009-9962-0
https://doi.org/10.1007/s10545-009-9962-0
Autor:
Rodney J. Pollitt, Verena Peters, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, James R. Bonham, M. Downing
Publikováno v:
Journal of Inherited Metabolic Disease. 31:690-696
A programme for proficiency testing of biochemical genetics laboratories undertaking urinary qualitative organic acid analysis and its results for 50 samples examined for factors contributing to poor performance are described. Urine samples from pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f0f10c1f83cf7bc88de85cf5fa33cd
https://doi.org/10.1007/s10545-008-0986-7
https://doi.org/10.1007/s10545-008-0986-7
Autor:
Rodney J. Pollitt
Publikováno v:
Journal of Inherited Metabolic Disease. 30:423-429
The disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and Jungner principles and of underlying data in the scientific literature, and great disparities betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ba968c2079fff896d25d57bc970cd23
https://doi.org/10.1007/s10545-007-0647-2
https://doi.org/10.1007/s10545-007-0647-2