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Familial porphyria cutanea tarda

Known as: PCT, 'FAMILIAL' TYPE 
 
National Institutes of Health

Papers overview

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2001
2001
In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial… Expand
2000
2000
Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria… Expand
1999
1999
The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with… Expand
Highly Cited
1996
Highly Cited
1996
A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is… Expand
1996
1996
We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with… Expand
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1995
1995
Porphyria cutanea tarda is a disorder of porphyrin metabolism, of which familial and sporadic forms have been described. Factors… Expand
1993
1993
Molecular defects have been reported for five of the eight enzymes involved in heme biosynthesis that provide a molecular basis… Expand
1991
1991
Abstract. A deficiency in the activity of uroporphyrinogen decarboxylase (URO‐D), the fifth enzyme of the haem biosynthetic… Expand
1988
1988
We report a case of familial porphyria cutanea tarda (FPCT) in a 7-year-old girl. The condition was exacerbated by low dose of… Expand