Source:http://linkedlifedata.com/resource/pubmed/id/19423559
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
2009-6-29
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pubmed:abstractText |
Familial hypocalciuric hypercalcaemia (FHH) is clinically characterized by mild to moderate parathyroid hormone (PTH)-dependent hypercalcaemia, autosomal dominant pattern of inheritance, and normal to frankly reduced urinary calcium excretion in spite of a high serum calcium (clearance (Ca)/clearance (Cr)<0.01). FHH has a benign course and should be differentiated from primary hyperparathyroidism. It is usually caused by a heterozygous loss-of-function mutation in the calcium-sensing receptor gene (CASR).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1479-683X
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:volume |
161
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
207-10
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pubmed:meshHeading |
pubmed-meshheading:19423559-Adenoma,
pubmed-meshheading:19423559-Adolescent,
pubmed-meshheading:19423559-Amino Acid Substitution,
pubmed-meshheading:19423559-Calcium,
pubmed-meshheading:19423559-Exons,
pubmed-meshheading:19423559-Family Health,
pubmed-meshheading:19423559-Humans,
pubmed-meshheading:19423559-Hypercalcemia,
pubmed-meshheading:19423559-Male,
pubmed-meshheading:19423559-Parathyroid Neoplasms,
pubmed-meshheading:19423559-Receptors, Calcium-Sensing
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pubmed:year |
2009
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pubmed:articleTitle |
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.
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pubmed:affiliation |
Pediatrics, Hôpital Universitaire des Enfants Reine Fabiola, U.L.B., 15, Avenue J.J. Crocq, 1020 Brussels, Belgium. cecile.brachet@huderf.be
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pubmed:publicationType |
Journal Article,
Case Reports
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