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Familial porphyria cutanea tarda
Known as:
PCT, 'FAMILIAL' TYPE
National Institutes of Health
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Related topics
Related topics
3 relations
Broader (1)
Disorders of Porphyrin Metabolism
UROD gene
Variegate Porphyria
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2001
2001
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f‐PCT)
M. Cappellini
,
Franco Martinez di Montemuros
,
+5 authors
G. Fiorelli
Human mutation
2001
Corpus ID: 37574104
In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial…
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2000
2000
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
M. Méndez
,
M. V. Rossetti
,
A. De Siervi
,
A. M. del Carmen Batlle
,
V. Parera
Human mutation
2000
Corpus ID: 23771882
Uroporphyrinogen decarboxylase (URO-D) deficiency is responsible for two forms of genetic cutaneous porphyria: familial porphyria…
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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…
L. Christiansen
,
C. Ged
,
+5 authors
N. E. Petersen
Human mutation
1999
Corpus ID: 245442
The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with…
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Highly Cited
1996
Highly Cited
1996
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
M. Morán-Jiménez
,
C. Ged
,
+5 authors
H. de Verneuil
American journal of human genetics
1996
Corpus ID: 23225372
A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is…
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1996
1996
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
J. McManus
,
C. Begley
,
S. Sassa
,
S. Ratnaike
Blood
1996
Corpus ID: 22004373
We describe five new mutations in the uroporphyrinogen decarboxylase (UROD) gene. All mutations were observed in conjunction with…
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1995
1995
The difference in liver pathology between sporadic and familial forms of porphyria cutanea tarda: the role of iron.
P. Siersema
,
L. Rademakers
,
+4 authors
J. Wilson
Journal of hepatology
1995
Corpus ID: 30690876
1993
1993
Molecular Biology of Porphyrias
F. Kiechle
1993
Corpus ID: 76297182
Molecular defects have been reported for five of the eight enzymes involved in heme biosynthesis that provide a molecular basis…
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1991
1991
Identification of a new mutation responsible for hepatoerythropoietic porphyria
M. Romana
,
B. Grandchamp
,
+5 authors
P. Romeo
European journal of clinical investigation
1991
Corpus ID: 22358220
Abstract. A deficiency in the activity of uroporphyrinogen decarboxylase (URO‐D), the fifth enzyme of the haem biosynthetic…
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1988
1988
Familial porphyria cutanea tarda in a 7-year-old girl.
D. Lambert
,
F. Beer
,
S. Dalac
,
M. J. Hourdain
Dermatologica
1988
Corpus ID: 7669604
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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