21402750

Source:http://linkedlifedata.com/resource/pubmed/id/21402750

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0001675, umls-concept:C0011155, umls-concept:C0015780, umls-concept:C0442592, umls-concept:C0524637, umls-concept:C1710693
pubmed:issue	6
pubmed:dateCreated	2011-5-30
pubmed:abstractText	The late presentation of steroid 5?-reductase-2 (SRD5A2) deficiency in females is poorly characterised. The ratios of 5?/5?-reduced metabolites of adrenal steroids in a urine steroid profile (USP) can give an indication of SRD5A2 deficiency, although the diagnostic cut-off for 5?/5? ratios are not clearly defined in genetically confirmed cases.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9423848
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/3-Oxo-5-alpha-Steroid..., http://linkedlifedata.com/resource/pubmed/chemical/DNA, http://linkedlifedata.com/resource/pubmed/chemical/Steroids, http://linkedlifedata.com/resource/pubmed/chemical/steroid-5alpha-reductase type 2
pubmed:status	MEDLINE
pubmed:month	Jun
pubmed:issn	1479-683X
pubmed:author	pubmed-author:BerraMartaM, pubmed-author:ConwayGerard SGS, pubmed-author:CreightonSarah MSM, pubmed-author:HonourJohn WJW, pubmed-author:MuroniBarbaraB, pubmed-author:RumsbyGillG, pubmed-author:WilliamsEmma LEL
pubmed:issnType	Electronic
pubmed:volume	164
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1019-25
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:21402750-3-Oxo-5-alpha-Steroid 4-Dehydrogenase, pubmed-meshheading:21402750-46, XY Disorders of Sex Development, pubmed-meshheading:21402750-Adult, pubmed-meshheading:21402750-DNA, pubmed-meshheading:21402750-Female, pubmed-meshheading:21402750-Genital Diseases, Female, pubmed-meshheading:21402750-Humans, pubmed-meshheading:21402750-Hypospadias, pubmed-meshheading:21402750-Middle Aged, pubmed-meshheading:21402750-Mutation, pubmed-meshheading:21402750-Mutation, Missense, pubmed-meshheading:21402750-Puberty, pubmed-meshheading:21402750-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:21402750-Steroid Metabolism, Inborn Errors, pubmed-meshheading:21402750-Steroids, pubmed-meshheading:21402750-Uterus, pubmed-meshheading:21402750-Virilism, pubmed-meshheading:21402750-Young Adult
pubmed:year	2011
pubmed:articleTitle	Recognition of 5?-reductase-2 deficiency in an adult female 46XY DSD clinic.
pubmed:affiliation	Department of Endocrinology, University College London Hospitals, 250 Euston Road, London NW1 2BU, UK.
pubmed:publicationType	Journal Article