Výsledky vyhledávání - "R J, Pollitt"

Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK

Autor: R J Pollitt, J V Leonard

Publikováno v: Archives of Disease in Childhood. 79:116-119

BACKGROUND—Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. OBJECTIVE—To i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cc4dd0f5eb1c58b2c349bf12b918257
https://doi.org/10.1136/adc.79.2.116

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Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

Autor: R J Pollitt, Sandra Jackson, Kim Bartlett, E R Moxon, J Land, James V. Leonard, Douglass M. Turnbull

Publikováno v: Pediatric Research. 29:406-411

We describe the clinical features and biochemical findings of two patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Both children presented with an acute metabolic crisis. Both had hypoglycemia and excreted even-chain unsubstituted

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d336df68f391341411b47c12980b2ef4
https://doi.org/10.1203/00006450-199104000-00016

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Neonatal screening

Autor: R J, Pollitt

Publikováno v: Journal of Clinical Pathology. 46:497-499

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65c40a368f8616b9c886fc6649d0ee7b
https://doi.org/10.1136/jcp.46.6.497

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The use of [9,10-3H]myristate, [9,10-3H]palmitate and [9,10-3H]oleate for the detection and diagnosis of medium and long-chain fatty acid oxidation disorders in intact cultured fibroblasts

Autor: S E, Olpin, N J, Manning, R J, Pollitt, J R, Bonham, M, Downing, S, Clark

Publikováno v: Advances in experimental medicine and biology. 466

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb97c9a262d4a04303048e8c044cf8ee
https://pubmed.ncbi.nlm.nih.gov/10709659

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Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system

Autor: H R, Seddon, G, Gray, R J, Pollitt, A, Iitiä, A, Green

Publikováno v: Clinical chemistry. 43(3)

We have screened 10171 neonatal blood spots from the Trent and West Midlands regions of the UK for the common G985 mutation to more accurately establish the incidence of medium-chain acyl coenzyme (Co)A dehydrogenase (MCAD) deficiency. We have used a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::854fa016ea545346bd6c17bc956b5ea6
https://pubmed.ncbi.nlm.nih.gov/9068586

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Neonatal screening for inborn errors of metabolism: cost, yield and outcome

Autor: R J, Pollitt, A, Green, C J, McCabe, A, Booth, N J, Cooper, J V, Leonard, J, Nicholl, P, Nicholson, J R, Tunaley, N K, Virdi

Publikováno v: Health technology assessment (Winchester, England). 1(7)

OBJECTIVES. To systematically review the literature on inborn errors of metabolism, neonatal screening technology and screening programmes in order to analyse the costs and benefits of introducing screening based on tandem mass-spectrometry (tandem M

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c2c9fcff42c7339345c37c22d4110005
https://pubmed.ncbi.nlm.nih.gov/9483160

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Impact of incomplete coverage of neonatal dried blood spot screening on estimating HIV-1 seroprevalence

Autor: C Grant, A. Nicoll, R J Pollitt, E. J. Hutchinson, P. Eldridge, Allison Streetly

Publikováno v: Epidemiology and infection. 117(1)

The aim of this study was to determine the extent to which selective under-coverage of births to mothers more likely to be at risk of HIV-1 infection will result in a significant under-estimation of the true neonatal seroprevalence. Census data, loca

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f8c6868cc8870d01d8e352f285ec1f2
https://pubmed.ncbi.nlm.nih.gov/8760966

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Trichothiodystrophy with sideroblastic anaemia and developmental delay

Autor: A. R. Lehmann, M M Reid, S A Lynch, R. J. Pollitt, D. de Berker, W H Lamb

Publikováno v: Archives of disease in childhood. 73(3)

A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d221c0067bb098e0ed74722ed2430af7
https://pubmed.ncbi.nlm.nih.gov/7492166

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Defects in mitochondrial fatty acid oxidation: clinical presentations and their role in sudden infant death

Autor: R J, Pollitt

Publikováno v: Padiatrie und Padologie. 28(1)

Defects in mitochondrial beta-oxidation may result in severe metabolic crisis after metabolic stress. The combination of hypoketotic hypoglycaemia and concurrent collapse of mitochondrial metabolic function may be very similar to that in Reye syndrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::317f64f7277a9028566709fead62871d
https://pubmed.ncbi.nlm.nih.gov/8446423

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