18409515

Source:http://linkedlifedata.com/resource/pubmed/id/18409515

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0268113
pubmed:issue	4
pubmed:dateCreated	2008-4-15
pubmed:abstractText	Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disease characterized by hyperuricemia of underexcretion type, gout, and chronic renal failure. Recent discovery of uromodulin mutations as a cause of FJHN and MCKD2 led a new concept, i.e. uromodulin-associated kidney disease (UAKD). The genotype-phenotype correlation and genetic heterogeneity of FJHN are reviewed.
pubmed:language	jpn
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0420546
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Mucoproteins, http://linkedlifedata.com/resource/pubmed/chemical/UMOD protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Uromodulin
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	0047-1852
pubmed:author	pubmed-author:ItakuraMitsuoM, pubmed-author:KudoEijiE
pubmed:issnType	Print
pubmed:volume	66
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	683-6
pubmed:dateRevised	2011-7-27
pubmed:meshHeading	pubmed-meshheading:18409515-Genes, Dominant, pubmed-meshheading:18409515-Genetic Heterogeneity, pubmed-meshheading:18409515-Gout, pubmed-meshheading:18409515-Humans, pubmed-meshheading:18409515-Hyperuricemia, pubmed-meshheading:18409515-Kidney Failure, Chronic, pubmed-meshheading:18409515-Mucoproteins, pubmed-meshheading:18409515-Mutation, pubmed-meshheading:18409515-Uromodulin
pubmed:year	2008
pubmed:articleTitle	[Familial juvenile hyperuricemic nephropathy (FJHN)].
pubmed:affiliation	'Department of Human Pathology, Institute of Health Biosciences, University of Tokushima Graduate School.
pubmed:publicationType	Journal Article, English Abstract, Review