Výsledky vyhledávání - "Javaria M Khalid"

Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance

Autor: Christopher J. H. Kelnar, J Oerton, Peter C. Hindmarsh, Rachel L Knowles, Javaria M Khalid, Carol Dezateux

Publikováno v: Archives of Disease in Childhood

Objectives To describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (CAH) in children aged over 1 year in a contemporary population without screening. To appraise the potentia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::320f4832b632ad84462be055e85fa452
http://europepmc.org/articles/PMC3888619

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Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence

Autor: Carol Dezateux, Jose Leal, Sarah Wordsworth, J Oerton, Javaria M Khalid

Background and Objectives Several countries have included medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in their newborn screening programs. However, the sensitivity of the programs cannot be estimated directly as only individuals with a pos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9b1e9357f718d3013e9b69fd373bebd
https://doi.org/10.1016/j.jclinepi.2014.05.011

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Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

Autor: M. Downing, G. T. N. Besley, M Cortina-Borja, J Leonard, J Oerton, M Henderson, Carol Dezateux, A Green, R N Dalton, Javaria M Khalid, Brage S. Andresen

Publikováno v: Khalid, J M, Oerton, J, Cortina-Borja, M, Andresen, B S, Besley, G, Dalton, R N, Downing, M, Green, A, Henderson, M, Leonard, J, Dezateux, C & UK Collaborative Study of Newborn Screening for MCADD 2008, ' Ethnicity of children with homozygous c.985A >G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants ', Journal of Medical Screening, vol. 15, no. 3, pp. 112-7 . https://doi.org/10.1258/jms.2008.008043

Objectives It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdecf89e46160c1be955eb7127f531cc
https://doi.org/10.1258/jms.2008.008043

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Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

Autor: Christopher J. H. Kelnar, J Oerton, Rachel L Knowles, Javaria M Khalid, Peter C. Hindmarsh, Carol Dezateux

Publikováno v: Archives of disease in childhood. 97(2)

Objectives To estimate the incidence of clinically diagnosed congenital adrenal hyperplasia (CAH), clinical features and age at first presentation. To assess the potential benefit of newborn screening for CAH. Design Active surveillance through the B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8b8ab4a3cae220b5af5b513d3af3dc
https://pubmed.ncbi.nlm.nih.gov/22241917

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Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency

Autor: Veronica Wiley, Steve Krywawych, Javaria M Khalid, A. Green, N. Dalton, M Henderson, Carol Dezateux, Bridget Wilcken, J Oerton, M. Downing, G. T. N. Besley

Publikováno v: Clinical chemistry. 56(6)

Background: Although octanoylcarnitine (C8) concentrations measured from newborn screening dried blood spots are used to identify those at high risk of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), age-related reference values are currently

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ccfbc46d94d99940855b8b5f116a9d
https://pubmed.ncbi.nlm.nih.gov/20413428

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Clinical outcome of congenital adrenal hyperplasia (CAH) one year following diagnosis: a UK wide study

Autor: Rachel L Knowles, Carol Dezateux, Javaria M Khalid, Peter C. Hindmarsh, Christopher J. H. Kelnar, J Oerton

Publikováno v: Archives of Disease in Childhood. 96:A27-A27

Background Congenital Adrenal Hyperplasia (CAH) is caused by recessively inherited enzyme deficiencies in cortisol production and affects an estimated one child in every 17 000 born in the UK. Children may present with life-threatening adrenal or sal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1f3f409776d22010ef44740a0c56f73e
https://doi.org/10.1136/adc.2011.212563.54

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Clinical presentation of older children with congenital adrenal hyperplasia: an important outcome for newborn screening policy

Autor: Carol Dezateux, Peter C. Hindmarsh, J Oerton, Rachel L Knowles, Javaria M Khalid, Christopher J. H. Kelnar

Publikováno v: Archives of Disease in Childhood. 95:A6.3-A7

Background Congenital adrenal hyperplasia (CAH) is caused by recessively inherited enzyme deficiencies in cortisol production and affects an estimated one child in every 10 000–20 000 born. Clinical presentations after the neonatal period include p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77138d73fdc4139591d90df89d393905
https://doi.org/10.1136/adc.2010.186338.16

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Clinical outcome at 2 years following diagnosis of medium chain acyl coenzyme a dehydrogenase deficiency through newborn screening: findings from the prospective UK collaborative and british paediatric surveillance unit studies

Autor: Maureen Cleary, Anupam Chakrapani, J Walter, James V. Leonard, J Oerton, Michael Champion, Brage S. Andresen, Carol Dezateux, Mark Sharrard, Javaria M Khalid

Publikováno v: Archives of Disease in Childhood. 95:A2.2-A2

Background Newborn screening for medium chain acyl coenzyme A dehydrogenase deficiency (MCADD) has been implemented in a number of countries, including England (April 2009) but there are few reports of clinical outcome in large-scale prospective stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f25b7069c62c0fc8ebf67c1cd0f81ac5
https://doi.org/10.1136/adc.2010.186338.5

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Long-term effectiveness and safety of vedolizumab in patients with ulcerative colitis: 5-year cumulative exposure of GEMINI 1 completers rolling into the GEMINI open-label extension study

Autor: Edward V. Loftus, Jean Frederic Colombel, Brian G. Feagan, Severine Vermeire, William J. Sandborn, Bruce E. Sands, Silvio Danese, Geert R. D'Haens, Arthur Kaser, Remo Panaccione, David T. Rubin, Ira Shafran, Sharon O'Byrne, Parnia Geransar, Alexandra James, Arpeat Kaviya, Javaria M. Khalid

Publikováno v: ResearcherID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ce516433a777ea6e20035b51ad5fe5
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000398606900336&KeyUID=WOS:000398606900336

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