| pubmed-article:18182448 | rdf:type | pubmed:Citation | lld:pubmed |
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| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0018067 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0521428 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0008381 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0205082 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0011155 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C1413855 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0205195 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:18182448 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:18182448 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:18182448 | pubmed:dateCreated | 2008-3-7 | lld:pubmed |
| pubmed-article:18182448 | pubmed:abstractText | Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in the gene encoding P450scc (CYP11A1), have been described, one in a 46,XX female and three in underandrogenized 46,XY individuals, all with primary adrenal failure. | lld:pubmed |
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| pubmed-article:18182448 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:18182448 | pubmed:citationSubset | AIM | lld:pubmed |
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| pubmed-article:18182448 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18182448 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:18182448 | pubmed:issn | 0021-972X | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:XXX | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:QuigleyCharmi... | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:AchermannJohn... | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:MillerWalter... | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:HuangNingwuN | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:AvRuskinTheod... | lld:pubmed |
| pubmed-article:18182448 | pubmed:author | pubmed-author:KimChan... | lld:pubmed |
| pubmed-article:18182448 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18182448 | pubmed:volume | 93 | lld:pubmed |
| pubmed-article:18182448 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18182448 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18182448 | pubmed:pagination | 696-702 | lld:pubmed |
| pubmed-article:18182448 | pubmed:dateRevised | 2010-11-18 | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:meshHeading | pubmed-meshheading:18182448... | lld:pubmed |
| pubmed-article:18182448 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18182448 | pubmed:articleTitle | Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. | lld:pubmed |
| pubmed-article:18182448 | pubmed:affiliation | Department of Pediatrics, University of California San Francisco, San Francisco, California 94143-0978, USA. | lld:pubmed |
| pubmed-article:18182448 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18182448 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:18182448 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:18182448 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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