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Familial porphyria cutanea tarda

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

Related topics

Related topics

3 relations

Broader (1)

Disorders of Porphyrin Metabolism
UROD geneVariegate Porphyria

Papers overview

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2001
2001
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f‐PCT)
In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial… 
2000
2000
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria… 
1999
1999
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial…
The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with… 
Highly Cited
1996
Highly Cited
1996
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is… 
1996
1996
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with… 
1995
1995
The difference in liver pathology between sporadic and familial forms of porphyria cutanea tarda: the role of iron.
1993
1993
Molecular Biology of Porphyrias
Molecular defects have been reported for five of the eight enzymes involved in heme biosynthesis that provide a molecular basis… 
1991
1991
Identification of a new mutation responsible for hepatoerythropoietic porphyria
Abstract. A deficiency in the activity of uroporphyrinogen decarboxylase (URO‐D), the fifth enzyme of the haem biosynthetic… 
1988
1988
Familial porphyria cutanea tarda in a 7-year-old girl.
We report a case of familial porphyria cutanea tarda (FPCT) in a 7-year-old girl. The condition was exacerbated by low dose of… 
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