Homozygous Variegate Porphyria: 20 y Follow-Up and Characterization of Molecular Defect
- 1 April 2001
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 116 (4) , 610-613
- https://doi.org/10.1046/j.1523-1747.2001.01293.x
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- THE OCCURRENCE AND DETERMINATION OF δ-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINEPublished by Elsevier ,2021
- Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected ProbandJournal of Investigative Dermatology, 1998
- A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyriaNature Genetics, 1996
- Homozygous variegate porphyria: an evolving clinical syndromePostgraduate Medical Journal, 1993
- Simple and Rapid Preparation of Samples for PCRPublished by Springer Nature ,1989
- Analysis of urine and faecal porphyrins by HPLC coupled to an advanced automated sample processorBiomedical Chromatography, 1986
- The inherited enzymatic defect in porphyria variegataHuman Genetics, 1981
- The Enzymatic Defect in Variegate PorphyriaNew England Journal of Medicine, 1980
- Variegate PorphyriaTWELVE YEARS' EXPERIENCE IN FINLANDQJM: An International Journal of Medicine, 1980
- Isolation of biologically active ribonucleic acid from sources enriched in ribonucleaseBiochemistry, 1979