Search Results - "Hift, Richard J"

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload by Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael N., Elder, George H., Holme, S. Alexander, Anstey, Alexander V., Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles, Puy, Hervé

“…All reported mutations in ALAS2, which encodes the rate-regulating enzyme of erythroid heme biosynthesis, cause X-linked sideroblastic anemia. We describe…”
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HIV viraemia during pregnancy in women receiving preconception antiretroviral therapy in KwaDukuza, KwaZulu-Natal by Ntlantsana, Vuyokazi, Mphatswe, Wendy P., Hift, Richard J.

“…Background: Preconception antiretroviral therapy (PCART) followed by sustained viral suppression is effective in preventing mother-to-child transmission of…”
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The impact of basic dermatology education and training on primary healthcare providers in KwaZulu-Natal, South Africa by Makaula, Pumeza U, Chateau, Antoinette V, Hift, Richard J, Dlova, Ncoza C, Mosam, Anisa

“…Dermatological diseases are amongst the commonest reasons for consultation at primary care level. Yet, dermatology teaching in medical and nursing curricula is…”
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Differentiation of breast tuberculosis and breast cancer using diffusion-weighted, T2-weighted and dynamic contrast-enhanced magnetic resonance imaging by Hift, Richard J., Ramaema, Dibuseng P.

“…Background: The use of multi-parametric magnetic resonance imaging (MRI) in the evaluation of breast tuberculosis (BTB).Objectives: To evaluate the value of…”
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Should essays and other "open-ended"-type questions retain a place in written summative assessment in clinical medicine? by Hift, Richard J

“…Written assessments fall into two classes: constructed-response or open-ended questions, such as the essay and a number of variants of the short-answer…”
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Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity by Hift, Richard J, Thunell, Stig, Brun, Atle

“…The acute porphyrias are a group of disorders which result from inherited defects in the enzymes of the heme biosynthetic pathway. Affected patients are prone…”
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The spectrum of skin diseases in a black population in Durban, KwaZulu-Natal, South Africa by Dlova, Ncoza C., Mankahla, Avumile, Madala, Nomandla, Grobler, Anneke, Tsoka-Gwegweni, Joyce, Hift, Richard J.

“…Background Precise knowledge of the prevalence and spectrum of skin diseases in a population allows for effective planning for provision of dermatology…”
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A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady' by Hift, Richard J, Peters, Timothy J, Meissner, Peter N

“…It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. This diagnosis is pervasive…”
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An Analysis of 112 Acute Porphyric Attacks in Cape Town, South Africa: Evidence That Acute Intermittent Porphyria and Variegate Porphyria Differ in Susceptibility and Severity by Hift, Richard J., Meissner, Peter N.

“…Four forms of porphyria may present clinically with the acute attack, an episodic, severe, and potentially life-threatening manifestation characterized by…”
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The neurological manifestations of the acute porphyrias by Sonderup, Mark W, Hift, Richard J

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Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1 by Panton, Nicola A, Strickland, Natalie Judith, Hift, Richard J, Warnich, Louise, Zaahl, Monique G

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Fifty years of porphyria at the University of Cape Town by Meissner, Peter N, Corrigall, Anne V, Hift, Richard J

“…The porphyrias are a group of disorders resulting from defective haem biosynthesis. One form, variegate porphyria, is common in South Africa as a result of a…”
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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 by Hift, Richard J, Davidson, Brandon P, van der Hooft, Cornelis, Meissner, Doreen M, Meissner, Peter N

“…Variegate porphyria (VP) is the autosomal dominant disorder associated with deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence…”
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The acute porphyrias by Elder, G H, Hift, R J, Meissner, P N

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A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria by Meissner, Peter N, Dailey, Tamara A, Hift, Richard J, Ziman, Mel, Corrigall, Anne V, Roberts, Andrew G, Meissner, Doreen M, Kirsch, Ralph E, Dailey, Harry A

“…Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a…”
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Commentary by Meissner, Peter N, Hift, Richard J

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Commentary by Meissner, Peter N, Hift, Richard J

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Commentary by Meissner, Peter N, Hift, Richard J

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The neurological manifestations of the acute porphyrias : forum : editorial by Sonderup, Mark W., Hift, Richard J.

“…The porphyrias are a group of eight metabolic disorders, each of which is associated with a specific enzymatic alteration in the haem biosynthetic pathway. In…”
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Prevalence of breast tuberculosis: Retrospective analysis of 65 patients attending a tertiary hospital in Durban, South Africa by Ramaema, Dibuseng P, Buccimazza, Ines, Hift, Richard J

“…Breast tuberculosis (BTB) is uncommon, but not rare. Knowledge of the ways in which it can present can prevent unnecessary invasive procedures and delay in…”
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