Linked Life Data

8434252

Source:http://linkedlifedata.com/resource/pubmed/id/8434252

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1993-3-18
pubmed:abstractText
Erythropoietic protoporphyria is an autosomal dominant hereditary disorder with irregular penetrance. Recently, the first molecular DNA defects have been published. Various courses the disease may take are illustrated by three cases. The main symptom is photosensitivity, usually beginning in early childhood. Development of gallstones at an early age is one possible complication. Terminal liver failure, a rare but fatal complication, is due to intrahepatic protoporphyrin deposition and is treatable by liver transplantation only. Possible treatment schemes for photosensitivity and for liver involvement are discussed.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0036-7672
pubmed:author
pubmed:issnType
Print
pubmed:day
13
pubmed:volume
123
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
229-33
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
[Often unrecognized: erythropoietic protoporphyria].
pubmed:affiliation
Institut für Klinische Chemie, Universitätsspital Zürich.
pubmed:publicationType
Journal Article, English Abstract, Case Reports, Research Support, Non-U.S. Gov't