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
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
Porphyria and its neurologic manifestations.
Tracy JA et al.
Handbook of Clinical Neurology, 2014
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
Mitochondrial targeting of human protoporphyrinogen oxidase.
Davids LM et al.
Cell Biology International, 2006
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
Mitochondrial targeting of normal and mutant protoporphyrinogen oxidase.
von und zu Fraunberg M et al.
The Journal of Biological Chemistry, 2003
Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients.
von und zu Fraunberg M et al.
European Journal of Human Genetics : Ejhg, 2002
Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.
Kauppinen R et al.
The Journal of Investigative Dermatology, 2001
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
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