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Uroporphyrinogen decarboxylase deficiency

Known as: UROD DEFICIENCY 
National Institutes of Health

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UROD gene

Papers overview

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1999
1999
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based…
Hepatoerythropoietic porphyria (HEP) is an inherited metabolic disorder characterized by the accumulation of porphyrins resulting… 
Review
1993
Review
1993
Hepatoerythropoietic porphyria precipitated by viral hepatitis.
Porphyria cutanea tarda (PCT), the condition resulting from a deficiency of hepatic uroporphyrinogen decarboxylase activity, is… 
1992
1992
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria].
BACKGROUND Porphyrias are either hepatic or erythroid, depending on the principal site of the specific enzymatic defect… 
1990
1990
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity
Catalytic and immunoreactive erythrocyte uroporphyrinogen decarboxylase was measured in a woman with hepatoerythropoietic… 
1987
1987
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage.
Hepatoerythropoietic porphyria is caused by a marked deficiency in the activity of uroporphyrinogen decarboxylase, an enzyme that… 
1984
1984
Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family
A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that… 
1984
1984
Development of chronic hepatic porphyria (porphyria cutanea tarda) with inherited uroporphyrinogen decarboxylase deficiency under exposure to dioxin.
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