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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
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2000
2000
Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria… Expand
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1999
1999
The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with… Expand
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1996
1996
A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is… Expand
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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
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1993
1993
Molecular defects have been reported for five of the eight enzymes involved in heme biosynthesis that provide a molecular basis… Expand
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1991
1991
A deficiency in the activity of uroporphyrinogen decarboxylase (URO-D), the fifth enzyme of the haem biosynthetic pathway, is… Expand
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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
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