Concepedia

Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family

Priscila C. F. Lazaro, RAFAEL E DE SALAMANCA, George H. Elder, M.L. VILLASECA, Sagrario Chinarro, G Jaqueti

British Journal of Dermatology · 2006 · 27 citations · 13 references

DOI

Concepts

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.

References

13

Purification and properties of uroporphyrinogen decarboxylase from human erythrocytes. A single enzyme catalyzing the four sequential decarboxylations of uroporphyrinogens I and III.

Hubert de Verneuil, Shigeru Sassa, Attallah Kappas · Journal of Biological Chemistry · 1983 · 139 citations · Full text

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HEPATOERYTHROPOIETIC PORPHYRIA: A NEW UROPORPHYRINOGEN DECARBOXYLASE DEFECT OR HOMOZYGOUS PORPHYRIA CUTANEA TARDA?

G H Elder, S.G. Smith, Carmen Herrero et al. · The Lancet · 1981 · 129 citations

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Porphyria Cutanea Tarda in Three Generations of a Single Family

Anthony V. Benedetto, James P. Kushner, James S. Taylor · New England Journal of Medicine · 1978 · 91 citations

Quantitation of red cell porphyrins by fluorescence scanning after thin-layer chromatography

R.S. Day, Rafael Enrı́quez de Salamanca, L Eales · Clinica Chimica Acta · 1978 · 58 citations

, , +10

Purification of uroporphyrinogen decarboxylase from human erythrocytes. Immunochemical evidence for a single protein with decarboxylase activity in human erythrocytes and liver

George H. Elder, John A. Tovey, Diane M. Sheppard · Biochemical Journal · 1983 · 55 citations · Full text

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