𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Enrichment of HFE mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda

✍ Scribed by P. Harper; Y. Floderus; P. Holmström; G. Eggertsen; M. Gåfvels


Book ID
108861870
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
60 KB
Volume
255
Category
Article
ISSN
0954-6820

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Extremely rare association of HFE mutati
✍ Kazumichi Furuyama; Masao Kondo; Kenji Hirata; Hiroyoshi Fujita; Shigeru Sassa 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 1 views

et al. 6 who also found no association between the C282Y mutation and SPCT. The H63D mutation was observed in 10 of the 48 PCT patients corresponding to 20.8%. Of the 10 individuals diagnosed, 4 belonged to the familial form of PCT and 6 to the sporadic form. The mutations detected were all heteroz

High prevalence of the His63Asp HFE muta
✍ Maurizio Sampietro; Alberto Piperno; Loredana Lupica; Cristina Arosio; Anna Verg 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 1 views

Sporadic porphyria cutanea tarda (PCT) is caused by a reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver. Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A

Epidemiology of hepatitis C and G in spo
✍ Jérôme Lamoril; Christophe Andant; Catherine Bogard; Hervé Puy; Laurent Gouya; J 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 1 views

From 1995 to 1997, we prospectively evaluated the prevalence of hepatitis C virus (HCV) RNA in 124 patients with porphyria cutanea tarda (PCT) from Northern France (83 sporadic and 41 familial PCT). Serum samples were analyzed for ferritin, transaminases, HCV antibodies, and HCV RNA. In addition, ge