8 results match your criteria Porphyria Chester

  • Page 1 of 1

Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.

Physiol Res 2006 ;55 Suppl 2:S137-44

Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.

The porphyrias arise from predominantly inherited catalytic deficiencies of specific enzymes in heme biosynthesis. All genes encoding these enzymes have been cloned and several mutations underlying the different types of porphyrias have been reported. Traditionally, the diagnosis of porphyria is made on the basis of clinical symptoms, characteristic biochemical findings, and specific enzyme assays. Read More

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http://www.biomed.cas.cz/physiolres/pdf/55%20Suppl%202/55_S1
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May 2007
9 Reads

Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity.

Acta Derm Venereol 2001 Oct-Nov;81(5):356-9

Department of Dermatology, University of Innsbruck, Austria.

Variegate porphyria is a rare disease caused by a deficiency of protoporphyrinogen oxidase. In most cases, the clinical findings are a combination of systemic symptoms similar to those occurring in acute intermittent porphyria and cutaneous lesions indistinguishable from those of porphyria cutanea tarda. We report on a 24-year-old woman with variegate porphyria who, after intake of lynestrenol, developed typical cutaneous lesions but no viscero-neurological symptoms. Read More

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http://dx.doi.org/10.1080/000155501317140098DOI Listing
May 2002
10 Reads

Dobson's complaint: the story of the chester porphyria

Authors:
Crimlisk

BMJ 1999 Jan;318(7179):336A

University of Marburg, Germany.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1114803PMC
January 1999
7 Reads

Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.

Hum Genet 1993 Jul;91(6):576-8

Countess of Chester Hospital, UK.

Chester porphyria is a distinct type of acute porphyria, which shows a biochemical overlap with acute intermittent and variegate porphyrias and has a dual enzyme deficiency of porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase. Linkage analysis in an extensive family with Chester porphyria was undertaken using multiple polymorphic markers. A maximum two point Lod score of 5. Read More

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July 1993
6 Reads

Hypertension and renal impairment as complications of acute porphyria.

Nephrol Dial Transplant 1992 ;7(10):986-90

Department of Medicine, Chester Royal Infirmary, UK.

Chronic hypertension with renal failure is the most common cause of death in a large family (10 children, 40 grandchildren, 109 great-grandchildren) with acute porphyria. A prospective study of 26 porphyric (19 latent) and 26 nonporphyric subjects shows a significant difference between mean systolic (141 versus 123 mmHg, P < 0.05) and diastolic (88 versus 74 mmHg, P < 0. Read More

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http://ndt.oxfordjournals.org/content/7/10/986.full.pdf
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December 1992
10 Reads

Regulation of erythroid cell-specific gene expression during erythropoiesis.

Br J Cancer Suppl 1988 Dec;9:46-51

Beatson Institute for Cancer Research, Bearsden, Glasgow, UK.

The aim of our group's work over the past few years has been to investigate the molecular mechanisms regulating erythroid cell-specific gene expression during erythroid cell differentiation. In addition to the alpha-globin gene, we have focussed on two non-globin genes of interest encoding the rabbit red cell-specific lipoxygenase (LOX) and the mouse glutathione peroxidase (GSHPX), an important seleno-enzyme responsible for protection against peroxide-damage. Characterisation of the GSHPX gene showed that the seleno-cysteine residue in the active site of the enzyme is encoded by UGA, which usually functions as a translation-termination codon. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2149114PMC
December 1988
5 Reads

Chester porphyria: a clinical study of a new form of acute porphyria.

Br Med J (Clin Res Ed) 1986 Feb;292(6518):455-9

Acute porphyria afflicts a large kindred in Chester that stems from a marriage in 1896 that has produced 200 descendants; this is the largest porphyric kindred to be identified in the United Kingdom. Six members aged 51 or under died from the condition over the past eight years. The diagnosis of porphyria was overlooked in some as the symptoms may mimic those of other acute illnesses, so that incomplete or incorrect death certificates have been issued. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1339435PMC
February 1986
12 Reads

Chester porphyria: biochemical studies of a new form of acute porphyria.

Lancet 1985 Oct;2(8459):796-9

A previously unrecognised form of acute porphyria has been identified in a large family in Chester, UK. Patients presented with attacks of neurovisceral dysfunction and none had experienced cutaneous photosensitivity. Biochemically, the excretion pattern of haem precursors varied between individuals; some had a pattern typical of acute intermittent porphyria, others showed that of variegate porphyria, and some had an intermediate pattern. Read More

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October 1985
9 Reads
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