Linked Life Data

15279406

Source:http://linkedlifedata.com/resource/pubmed/id/15279406

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
22
pubmed:dateCreated
2004-7-28
pubmed:abstractText
Authors highlight the difficulties of syndrome identification through reporting the first case of DOOR syndrome in Hungary (the 28th case worldwide). The awareness and appropriate weighing of the importance of vestigial nails (onychodystrophy) was crucial for the correct diagnosis. Based on the normal level of 2-oxoglutarate excretion, the patient can be categorized as type 2. This is associated with better survival, which does not mean a substantial difference in quality of life. Although, prenatal diagnosis is not possible at present, knowledge of the enzyme defect and detection of the reduced activity of the 2-oxoglutarate dehydrogenase E1 component may provide an opportunity. If parents opt to have another child, a 25% risk is to be taken into account.
pubmed:language
hun
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0030-6002
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
145
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1183-7
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
[DOOR (deafness, onychodystrophy, osteodystrophy, mental retardation) syndrome].
pubmed:affiliation
Szombathely Megyei Jogú Város és a Vas megyei Onkormányzat Markusovszky Kórház Csecsemo- és Gyermekosztály.
pubmed:publicationType
Journal Article, English Abstract, Case Reports