✦ LIBER ✦

A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family

✍ Scribed by R.J. Hift; D. Meissner; P.N. Meissner

Book ID: 108667690
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 119 KB
Volume: 151
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2004.06120.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification and characterisation of a

Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family

✍ Anne V. Corrigall; Richard J. Hift; Valerie Hancock; Doreen Meissner; Lester Dav 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 2 views

Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from a partial decrease in protoporphyrinogen oxidase activity. Variegate porphyria is highly prevalent in South Africa, the result of a founder effect now confirmed genetically as a single point mutation (R59W) which

Administration of oral activated charcoa

Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration

✍ R.J. Hift; G. Todd; P.N. Meissner; R.E. Kirsch 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 58 KB

Extended haplotype studies in South Afri

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry

✍ A.M. van Tuyll van Serooskerken; B.I. Drögemöller; K. te Velde; R.S. Bladergroen 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

Lack of the R59W South African founder e

Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a Britsh patient with homozxygous variegate porphyria

✍ J.A. McGrath; J.L.M. Hawk; R.M. Graham; A.M. Christiano 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB

A Chilean boy with severe photosensitivi

A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America

✍ P. Poblete-Gutiérrez; C. Wolff; R. Farias; J. Frank 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 181 KB

Overrepresentation of the founder PPOX g

Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria

✍ J. Nico P. De Villiers; Maritha J. Kotze; Carel J. Van Heerden; Annalene Sadie; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 749 KB