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
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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