Linked Life Data

9439912

Source:http://linkedlifedata.com/resource/pubmed/id/9439912

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
1998-2-18
pubmed:abstractText
Permanent congenital hypothyroidism in the Netherlands (incidence 1:3000) is caused for 70-80% by a- or dysgenesis of the thyroid gland, for about 15% by dyshormonogenesis and for 10-15% by hypothalamic-pituitary disturbances. The heredity of congenital hypothyroidism caused by dyshormonogenesis is mendelian in character and follows, with a few exceptions, an autosomal recessive pattern. The diagnosis of these inborn errors is based on a combination of imaging studies, plasma hormone and thyroglobulin concentrations, and the concentration of iodide and iodinated peptides in the urine. The contribution of molecular biology is becoming an important factor in the classification of hereditary congenital hypothyroidism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0947-7349
pubmed:author
pubmed:issnType
Print
pubmed:volume
105 Suppl 4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
32-7
pubmed:dateRevised
2005-11-17
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Inborn errors of thyroid hormone biosynthesis.
pubmed:affiliation
Academic Medical Center, University of Amsterdam, Emma Children's Hospital AMC, The Netherlands.
pubmed:publicationType
Journal Article, Review