Richard Hift

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 289 citations · Full text

Biology, Medicine, Genetics +11

A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria

Peter N. Meissner, Tamara A. Dailey, Richard Hift et al. · Nature Genetics · 1996 · 216 citations

Biology, South Africans, Medicine +8

An Analysis of 112 Acute Porphyric Attacks in Cape Town, South Africa

Richard Hift, Peter N. Meissner · Medicine · 2005 · 149 citations

Use of thiopurines in the treatment of inflammatory bowel disease is associated with an increased risk of non‐melanoma skin cancer in an at‐risk population: A cohort study

Mashiko Setshedi, D. Epstein, Trevor A. Winter et al. · Journal of Gastroenterology and Hepatology · 2011 · 105 citations

Plasma Fluorescence Scanning and Fecal Porphyrin Analysis for the Diagnosis of Variegate Porphyria: Precise Determination of Sensitivity and Specificity with Detection of Protoporphyrinogen Oxidase Mutations as a Reference Standard

Richard Hift, Brandon P. Davidson, C. van der Hooft et al. · Clinical Chemistry · 2004 · 67 citations · Full text