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 | Zendy

Richard Hift | Zendy; Brandon P. Davidson | Zendy; C. van der Hooft | Zendy; Doreen Meissner | Zendy; Peter N. Meissner | Zendy

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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

Author(s) -

Richard Hift,

Brandon P. Davidson,

C. van der Hooft,

Doreen Meissner,

Peter N. Meissner

Publication year - 2004

Publication title -

clinical chemistry

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.705

H-Index - 218

eISSN - 1530-8561

pISSN - 0009-9147

DOI - 10.1373/clinchem.2003.025213

Subject(s) - protoporphyrinogen oxidase , porphyrin , asymptomatic , porphyria , fluorescence , medicine , feces , chemistry , gastroenterology , biology , biochemistry , gene , microbiology and biotechnology , physics , quantum mechanics

Variegate porphyria (VP) is the autosomal dominant disorder associated with deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence scanning has been reported to be a more sensitive test for VP than traditional fecal chromatography. Previous comparisons of these techniques predated identification of the PPOX gene. We assessed these techniques in a large group of patients characterized for VP at the DNA level.

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