Familial porphyria cutanea tarda

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

Topic mentions per year

Topic mentions per year

1983-2010
0119832010

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2001
2001
In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial… (More)
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2000
2000
Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria… (More)
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1998
1998
A marked discrepancy between mild and late clinical features and a nearly complete absence of erythrocyte uroporphyrinogen… (More)
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1997
1997
Two cases of familial porphyria cutanea tarda (PCT) with constrictive pericarditis are described. A 50-year-old woman and her 48… (More)
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1996
1996
A case of a familial porphyria cutanea tarda (PCT-II) is reported in which the clinically overt form of PCT was provoked by… (More)
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1996
1996
We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with… (More)
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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… (More)
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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… (More)
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1984
1984
Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic… (More)
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1983
1983
Immunoreactive uroporphyrinogen decarboxylase was measured by rocket immuno-electrophoresis in haemolysates from 7 unrelated… (More)
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