Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family
- 29 July 2006
- journal article
- case report
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 110 (5), 613-617
- https://doi.org/10.1111/j.1365-2133.1984.tb04687.x
Abstract
A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.Keywords
This publication has 12 references indexed in Scilit:
- Purification of uroporphyrinogen decarboxylase from human erythrocytes. Immunochemical evidence for a single protein with decarboxylase activity in human erythrocytes and liverBiochemical Journal, 1983
- Quantitative and qualitative porphyrin excretion in normal subjectsInternational Journal of Biochemistry, 1982
- Severe Cutaneous Porphyria in a 12-Year-Old BoyArchives of Dermatology, 1982
- Measurement of Uroporphyrinogen Decarboxylase Using Porphyrinogens Prepared by Chemical ReductionEnzyme, 1982
- HEPATOERYTHROPOIETIC PORPHYRIA: A NEW UROPORPHYRINOGEN DECARBOXYLASE DEFECT OR HOMOZYGOUS PORPHYRIA CUTANEA TARDA?The Lancet, 1981
- The inheritance of porphyria cutanea tardaInternational Journal of Biochemistry, 1980
- Hepatoerythropoietic PorphyriaArchives of Dermatology, 1980
- Familial and sporadic porphyria cutanea: two different diseasesInternational Journal of Biochemistry, 1978
- Quantitation of red cell porphyrins by fluorescence scanning after thin-layer chromatographyClinica Chimica Acta; International Journal of Clinical Chemistry, 1978
- Porphyria Cutanea Tarda in Three Generations of a Single FamilyNew England Journal of Medicine, 1978