Linked Life Data

21088058

Source:http://linkedlifedata.com/resource/pubmed/id/21088058

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-1-19
pubmed:abstractText
Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI), a disorder caused by mutations in the vasopressin (AVP)-neurophysin II (NPII) gene, manifests gradually during early childhood with progressive polyuria and polydipsia. Patients are usually treated with synthetic AVP analog. If unlimited access to water is provided, prognosis is usually good even in the absence of specific treatment. In this study, we describe three families with adFNDI, in which growth failure was a prominent complaint, on the clinical and molecular level.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1479-683X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
164
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
179-87
pubmed:dateRevised
2011-3-29
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene.
pubmed:affiliation
Pediatric Endocrinology Pediatric Radiology, Hôpital Universitaire des Enfants Reine Fabiola-ULB, 1020 Brussels, Belgium.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't