Linked Life Data

10962966

Source:http://linkedlifedata.com/resource/pubmed/id/10962966

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
33
pubmed:dateCreated
2000-9-20
pubmed:abstractText
Familial hypocalciuric hypocalcaemia (FHH) is a rare disorder, inherited in an autosomal dominant manner. It has earlier been believed that neonatal severe hyperparathyroidism (NSHPT) is the homozygous form of FHH, but in this case story we show that it is not always like that. We describe a girl who presents with a calcium metabolic disorder from birth. Genetic examination of the girl and her family shows a single abnormal allele in the calcium ion sensitive receptor. We discuss why some heterozygotic inactivating calcium receptor mutations cause NSHPT, while the majority of other mutations only cause mild, asymptomatic hypercalcaemia as in FHH.
pubmed:language
dan
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0041-5782
pubmed:author
pubmed:issnType
Print
pubmed:day
14
pubmed:volume
162
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
4402-3
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].
pubmed:affiliation
Klinisk biokemisk afdeling, Amtssygehuset i Glostrup.
pubmed:publicationType
Journal Article, English Abstract, Case Reports