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
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
A boy with blistering of sun-exposed skin and finger shortening: the first case of Variegate Porphyria with a novel mutation in protoporphyrinogen oxidase (PPOX) gene in Iran: a case report and literature review.
Vafaee-Shahi M et al.
Italian Journal of Pediatrics, 2022
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
Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.
Meier P et al.
Clinical Laboratory, 2005
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
Molecular characterization of homozygous variegate porphyria.
Roberts AG et al.
Human Molecular Genetics, 1998
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
Frank J et al.
The Journal of Investigative Dermatology, 1998
Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.
Frank J et al.
The Journal of Investigative Dermatology, 1998
Characteristics of human protoporphyrinogen oxidase in controls and variegate porphyrias.
Dailey HA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 1997
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
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