Výsledky vyhledávání - "Pollitt, Rodney J."

Akademický článek

Different viewpoints: International perspectives on newborn screening

Autor: Pollitt Rodney J.

Publikováno v: Journal of Medical Biochemistry, Vol 34, Iss 1, Pp 18-22 (2015)

Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information

Externí odkaz: https://doaj.org/article/60358ed9dd764aaca9a05227c828767c

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Akademický článek

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Autor: Hartley, Jane Louise, Zachos, Nicholas C., Dawood, Ban, Donowitz, Mark, Forman, Julia, Pollitt, Rodney J., Morgan, Neil V., Tee, Louise, Gissen, Paul, Kahr, Walter H.A., Knisely, Alex S., Watson, Steve, Chitayat, David, Booth, Ian W., Protheroe, Sue, Murphy, Stephen, de Vries, Esther, Kelly, Deirdre A., Maher, Eamonn R.

Publikováno v: In Gastroenterology 2010 138(7):2388-2398

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Akademický článek

Different Viewpoints: International Perspectives On Newborn Screening/Različita Gledišta: Međunarodne Perspektive U Vezi Sa Testiranjem Novorođenčadi.

Autor: Pollitt, Rodney J.¹

Publikováno v: Journal of Medical Biochemistry. 2014, Vol. 34 Issue 1, p18-22. 5p. 1 Diagram.

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Akademický článek

Treating rare inborn errors of metabolism.

Autor: Pollitt, Rodney J.¹ Rodney.Pollitt@sch.nhs.uk, Sharrard, Mark J.¹

Publikováno v: Lancet. 12/18/2004, Vol. 364 Issue 9452, p2158-2160. 3p. 1 Black and White Photograph.

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Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy

Autor: Lamhonwah, Anne-Marie, Olpin, Simon E., Pollitt, Rodney J., Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T., Onizuka, Rusell, De Meirleir, Linda J., Cvitanović-Sojat, Ljerka, Barić, Ivo, Dionisi-Vici, Carlo, Fumić, Ksenija, Maradin, Miljenka, Tein, Ingrid

Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e4568ab74addaca0ee49cae839fc907
https://biblio.vub.ac.be/vubir/novel-octn2-mutations-no-genotypephenotype-correlations-early-carnitine-therapy-prevents-cardiomyopathy(e33c7949-f7e1-4557-bd4b-06607f979059).html