Search Results - "MEISSNER, P. N"
-
1
A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family
Published in British journal of dermatology (1951) (01-08-2004)“…Summary Background Variegate porphyria (VP) is an autosomal dominant disorder associated with deficient haem synthesis. Recent reports indicate that the…”
Get full text
Journal Article -
2
The acute porphyrias
Published in The Lancet (British edition) (31-05-1997)Get more information
Journal Article -
3
Administration of oral activated charcoal in variegate porphyria results in a paradoxical clinical and biochemical deterioration
Published in British journal of dermatology (1951) (01-12-2003)“…Summary Background Porphyrinogens are the obligate intracellular precursors of haem. These compounds are, however, unstable and are easily oxidized to the…”
Get full text
Journal Article -
4
Molecular characterization of erythropoietic protoporphyria in South Africa
Published in British journal of dermatology (1951) (01-07-2008)“…Summary Background Erythropoietic protoporphyria (EPP) results from a partial deficiency of ferrochelatase (FECH). Clinical expression normally requires…”
Get full text
Journal Article -
5
Anaesthesia for the porphyric patient
Published in Anaesthesia (01-05-1993)Get more information
Journal Article -
6
Purification of and kinetic studies on a cloned protoporphyrinogen oxidase from the aerobic bacterium Bacillus subtilis
Published in Archives of biochemistry and biophysics (15-10-1998)“…The previously cloned and expressed protoporphyrinogen oxidase from Bacillus subtilis has been purified to homogeneity by Ni2+ affinity chromatography using a…”
Get full text
Journal Article -
7
Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-12-2002)“…A number of factors, including increased iron stores and alcohol consumption, are known to be associated with the development of porphyria cutanea tarda (PCT)…”
Get more information
Journal Article -
8
Homozygous variegate porphyria: an evolving clinical syndrome
Published in Postgraduate Medical Journal (01-10-1993)“…Variegate porphyria is one of the most frequently encountered genetic conditions in South Africa. It is inherited as an autosomal dominant disease and in…”
Get full text
Journal Article Book Review -
9
Homozygous Variegate Porphyria in South Africa: Genotypic Analysis in Two Cases
Published in Molecular genetics and metabolism (01-04-2000)“…Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase…”
Get full text
Journal Article -
10
Hepatoerythropoietic porphyria precipitated by viral hepatitis
Published in Gut (01-11-1993)“…Porphyria cutanea tarda (PCT), the condition resulting from a deficiency of hepatic uroporphyrinogen decarboxylase activity, is the commonest form of…”
Get full text
Journal Article -
11
Identification of the First Variegate Porphyria Mutation in an Indigenous Black South African and Further Evidence for Heterogeneity in Variegate Porphyria
Published in Molecular genetics and metabolism (01-05-2001)“…Variegate porphyria is an autosomal dominant disorder of haem metabolism resulting from reduced levels of the penultimate enzyme in the pathway,…”
Get full text
Journal Article -
12
The expression of protoporphyrinogen oxidase in human tissues
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-07-2009)“…Protoporphyrinogen oxidase is the penultimate enzyme in the haem biosynthetic pathway. In this study, the expression of protoporphyrinogen oxidase in a variety…”
Get more information
Journal Article -
13
Propofol as an i.v. anaesthetic induction agent in variegate porphyria
Published in British journal of anaesthesia : BJA (01-01-1991)“…The choice of an i.v. anaesthetic induction poses problems for the anaesthetist confronted with a patient with one of the acute porphyrias. We undertook a…”
Get more information
Journal Article -
14
The effect of oral activated charcoal on the course of congenital erythropoietic porphyria
Published in British journal of dermatology (1951) (01-07-1993)“…The administration of oral activated charcoal to two patients with congenital erythropoietic porphyria has previously been reported to result in a marked…”
Get more information
Journal Article -
15
A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
Published in Nature genetics (01-05-1996)“…Variegate porphyria (VP), a low-penetrant autosomal dominant inherited disorder of haem metabolism, is characterised by photosensitivity (Fig. 1) and a…”
Get full text
Journal Article -
16
Mapping of the variegate porphyria (VP) gene : contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32
Published in Human genetics (01-05-1996)“…The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in South Africa, evidently due to a founder effect, was previously…”
Get full text
Journal Article -
17
Variegate porphyria in South Africa, 1688-1996 : new developments in an old disease
Published in SAMJ. South African medical journal (01-06-1997)“…Variegate porphyria, an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase, the penultimate haem biosynthetic…”
Get full text
Conference Proceeding Journal Article -
18
Porphyrinogenicity of etomidate and ketamine as continuous infusions. Screening in the DDC-primed rat model
Published in British journal of anaesthesia : BJA (01-04-1985)“…The porphyrinogenicity of etomidate and ketamine administered as continuous i.v. infusions was screened in the DDC-primed rat model of latent variegate…”
Get more information
Journal Article -
19
Diagnosis of variegate porphyria at birth by demonstration of the R59W mutation
Published in South African medical journal (01-06-1997)Get full text
Journal Article -
20
Erythroid heme biosynthesis and its disorders
Published in Cold Spring Harbor perspectives in medicine (01-04-2013)“…Heme, which is composed of iron and the small organic molecule protoporphyrin, is an essential component of hemoglobin as well as a variety of physiologically…”
Get full text
Journal Article