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
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
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
Quantitative structural insight into human variegate porphyria disease.
Wang B et al.
The Journal of Biological Chemistry, 2013
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
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
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