16860720

Source:http://linkedlifedata.com/resource/pubmed/id/16860720

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0006961, umls-concept:C0006962, umls-concept:C0011155, umls-concept:C0011900, umls-concept:C0032961
pubmed:issue	6
pubmed:dateCreated	2006-7-24
pubmed:abstractText	Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle defect. We present a case of a 41-year-old woman diagnosed with CPS deficiency during pregnancy. She is the oldest CPS-deficient patient, at diagnosis, reported to date and the first to be diagnosed during pregnancy. This case highlights the need for consideration of inborn errors of metabolism in adults presenting with unusual neurological and psychiatric conditions.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/9433352
pubmed:citationSubset	IM
pubmed:status	MEDLINE
pubmed:month	Jul
pubmed:issn	0967-5868
pubmed:author	pubmed-author:ComanDD, pubmed-author:EatherGG, pubmed-author:LanderCC, pubmed-author:McGillJJ
pubmed:issnType	Print
pubmed:volume	13
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	702-6
pubmed:meshHeading	pubmed-meshheading:16860720-Adult, pubmed-meshheading:16860720-Basal Ganglia, pubmed-meshheading:16860720-Carbamoyl-Phosphate Synthase I Deficiency Disease, pubmed-meshheading:16860720-Cerebellum, pubmed-meshheading:16860720-Female, pubmed-meshheading:16860720-Humans, pubmed-meshheading:16860720-Magnetic Resonance Imaging, pubmed-meshheading:16860720-Pregnancy
pubmed:year	2006
pubmed:articleTitle	Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old.
pubmed:affiliation	Department of Neurology, The Royal Brisbane Hospital, Brisbane, Australia.
pubmed:publicationType	Journal Article, Case Reports