Linked Life Data

16390615

Source:http://linkedlifedata.com/resource/pubmed/id/16390615

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
Pt 1
pubmed:dateCreated
2006-1-4
pubmed:abstractText
The porphyrias are a group of inborn or acquired disorders of haem synthesis that can result in neurovisceral or dermatological symptoms. Diagnosis is usually made using a combination of clinical presentation and biochemical parameters. This case report describes a 25-year-old woman clinically presenting with a rash and then found to have elevated porphobilinogen concentrations in her urine. The initial presumptive diagnosis of variegate porphyria was not supported by analysis of her plasma, urine and faeces, which suggested a combination of acute intermittent porphyria and porphyria cutanea tarda. Sequencing of the hydroxymethylbilane synthase and uroporphyrinogen decarboxylase genes confirmed the relatively rare diagnosis of dual porphyria, and revealed a novel uroporphyrinogen decarboxylase mutation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0004-5632
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
80-2
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Dual porphyria with mutations in both the UROD and HMBS genes.
pubmed:affiliation
Molecular Pathology, Canterbury Health Laboratories, P.O. Box 151, Christchurch, New Zealand. jharraway@member.rcpa.edu.au
pubmed:publicationType
Journal Article, Case Reports