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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.
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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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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