Associated Papers
Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Kaiser N et al.
Orphanet Journal of Rare Diseases, 2025
Practical recommendations for biochemical and genetic diagnosis of the porphyrias.
Aarsand AK et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
From chemistry to genomics: A concise history of the porphyrias.
Badminton MN et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2024
The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity.
Wang B et al.
Biochemical and Biophysical Research Communications, 2021
Bioinformatic Analysis of the Flavin-Dependent Amine Oxidase Superfamily: Adaptations for Substrate Specificity and Catalytic Diversity.
Tararina MA et al.
Journal of Molecular Biology, 2020
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).
Bonkovsky HL et al.
Molecular Genetics and Metabolism, 2019
Heme biosynthesis and the porphyrias.
Phillips JD
Molecular Genetics and Metabolism, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y et al.
Nature Communications, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.
Ramanujam VS et al.
Current Protocols in Human Genetics, 2015
Haplotype Study in Argentinean Variegate Porphyria Patients.
Granata BX et al.
Human Heredity, 2015
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology.
Horner ME et al.
International Journal of Dermatology, 2013
Quantitative structural insight into human variegate porphyria disease.
Wang B et al.
The Journal of Biological Chemistry, 2013
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM et al.
The British Journal of Dermatology, 2012
Structural insight into human variegate porphyria disease.
Qin X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
van Serooskerken AM et al.
Journal of Dermatological Science, 2011
Clinic and genetic evaluation of variegate porphyria (VP) in a large family from the Balearic Islands.
Bonnin A et al.
Journal of Inherited Metabolic Disease, 2009
Functional analysis of the 5' regulatory region of the 5-aminolevulinate synthase (ALAS1) gene in response to estrogen.
du Plessis N et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Rossetti MV et al.
Bmc Medical Genetics, 2008
Lessons learned from DNA repair defective syndromes.
Thoms KM et al.
Experimental Dermatology, 2007
Functional definition of the tobacco protoporphyrinogen IX oxidase substrate-binding site.
Heinemann IU et al.
The Biochemical Journal, 2007
Crystal structure of protoporphyrinogen oxidase from Myxococcus xanthus and its complex with the inhibitor acifluorfen.
Corradi HR et al.
The Journal of Biological Chemistry, 2006
Modern diagnosis and management of the porphyrias.
Sassa S
British Journal of Haematology, 2006
Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis.
Kotze MJ et al.
Metabolic Brain Disease, 2006
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.
Lecha M et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2006
Swiss patients with variegate porphyria have unique mutations.
Schneider-Yin X et al.
Swiss Medical Weekly, 2006
Mitochondrial targeting of human protoporphyrinogen oxidase.
Davids LM et al.
Cell Biology International, 2006
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
Poblete-Gutiérrez P et al.
The British Journal of Dermatology, 2006
Dual porphyria with mutations in both the UROD and HMBS genes.
Harraway JR et al.
Annals of Clinical Biochemistry, 2006
Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.
Sies CW et al.
Pathology, 2005
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
de Villiers JN et al.
Experimental Dermatology, 2005
Molecular mechanisms of dominant expression in porphyria.
Badminton MN et al.
Journal of Inherited Metabolic Disease, 2005
A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family.
Hift RJ et al.
The British Journal of Dermatology, 2004
Founder mutations among the Dutch.
Zeegers MP et al.
European Journal of Human Genetics : Ejhg, 2004
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.
Hift RJ et al.
Clinical Chemistry, 2004
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
Maneli MH et al.
Biochimica Et Biophysica Acta, 2003
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.
Wiman A et al.
Clinical Genetics, 2003
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
D'Amato M et al.
Human Mutation, 2003
Human hereditary hepatic porphyrias.
Nordmann Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2002
A mouse model for South African (R59W) variegate porphyria: construction and initial characterization.
Medlock AE et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2002
Haplotype analysis excludes the functional protoporphyrinogen oxidase promoter polymorphism -1081G>A as a modifying factor in the clinical expression of variegate porphyria.
Warnich L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2002
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Frank J et al.
The Journal of Investigative Dermatology, 2001
Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.
Corrigall AV et al.
Molecular Genetics and Metabolism, 2001
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.
von und zu Fraunberg M et al.
Molecular Medicine (cambridge, Mass.), 2001
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene.
Palmer RA et al.
The British Journal of Dermatology, 2001
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Frank J et al.
Human Heredity, 2001
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.
Maeda N et al.
Clinical Biochemistry, 2000