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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2009-2-4
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pubmed:abstractText |
Congenital primary hypothyroidism occurs in one out of 4,000 births. About 20% of cases are due to defects in thyroid hormonogenesis. We report on a German girl with congenital hypothyroidism due to a mutation in the thyroid peroxidase (TPO) gene who had elevated serum levels of thyroglobulin during periods of hyperthyrotropinemia.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0334-018X
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1093-7
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pubmed:meshHeading |
pubmed-meshheading:19189706-Congenital Hypothyroidism,
pubmed-meshheading:19189706-DNA Mutational Analysis,
pubmed-meshheading:19189706-Female,
pubmed-meshheading:19189706-Homozygote,
pubmed-meshheading:19189706-Humans,
pubmed-meshheading:19189706-Infant,
pubmed-meshheading:19189706-Iodide Peroxidase,
pubmed-meshheading:19189706-Mutation,
pubmed-meshheading:19189706-Sequence Analysis, DNA,
pubmed-meshheading:19189706-Thyroglobulin
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pubmed:year |
2008
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|
pubmed:articleTitle |
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.
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pubmed:affiliation |
Dr. von Hauner University Children's Hospital, Pediatric Endocrinology and Medical Genetics, Munich, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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