Search Results - "Meissner, Doreen M"

Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mutations as a Reference Standard by Hift, Richard J, Davidson, Brandon P, van der Hooft, Cornelis, Meissner, Doreen M, Meissner, Peter N

“…Variegate porphyria (VP) is the autosomal dominant disorder associated with deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence…”
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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria by Meissner, Peter N, Dailey, Tamara A, Hift, Richard J, Ziman, Mel, Corrigall, Anne V, Roberts, Andrew G, Meissner, Doreen M, Kirsch, Ralph E, Dailey, Harry A

“…Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a…”
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Variegate porphyria in South Africa, 1688-1996 : new developments in an old disease by HIFT, R. J, MEISSNER, P. N, CORRIGALL, A. V, ZIMAN, M. R, PETERSEN, L. A, MEISSNER, D. M, DAVIDSON, B. P, SUTHERLAND, J, DAILEY, H. A, KIRSCH, R. E

“…Variegate porphyria, an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase, the penultimate haem biosynthetic…”
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