An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity
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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 standard
Hift RJ, Davidson BP, van der Hooft C, et al. 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 standard. Clin Chem. 2004;50:915-23.
Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma
Long C, Smyth SJ, Woolf J, et al. Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Br J Dermatol. 1993;129:9-13.
Variegate porphyria in Western Europe: Identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation
Whatley SD, Puy H, Morgan RR, et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. A J Hum Genet. 1999;65:984-94.
Variegate porphyria in South Africa, 1688-1996-new developments in an old disease
Hift RJ, Meissner PN, Corrigall AV, et al. Variegate porphyria in South Africa, 1688-1996-new developments in an old disease. S Afr Med J. 1997;87:722-31.
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. Nat Genet. 2002;30:27-8.