| pubmed-article:6799930 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:6799930 | lifeskim:mentions | umls-concept:C0678804 | lld:lifeskim |
| pubmed-article:6799930 | lifeskim:mentions | umls-concept:C0001554 | lld:lifeskim |
| pubmed-article:6799930 | lifeskim:mentions | umls-concept:C0005575 | lld:lifeskim |
| pubmed-article:6799930 | lifeskim:mentions | umls-concept:C0026755 | lld:lifeskim |
| pubmed-article:6799930 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:6799930 | pubmed:dateCreated | 1982-4-12 | lld:pubmed |
| pubmed-article:6799930 | pubmed:abstractText | Biotin responsive multiple carboxylase deficiency was suspected in a third trimester conceptus on the basis of enzymatic confirmation in fibroblasts cultured from an earlier sibling who suffered a demise in the immediate neonatal period. Maternal urinary organic acid profile was normal throughout the final 4 wk of pregnancy. Oral administration of biotin, 10 mg/day to the mother resulted in a 100-fold increase in urinary biotin excretion within 7 days. Urinary biotin excretion over the subsequent 2 wk decreased steadily, suggesting either decreased maternal absorption or increased fetal sequestration. After the birth of nonidentical twins, cord blood and urinary organic acid profiles of the infants were normal. However, cord blood biotin concentration was 4 to 7-fold that of normal newborns. Subsequent enzymatic and genetic complementation studies utilizing cultured skin fibroblasts from the infants demonstrated one of them to be affected by the multiple carboxylase defect, although he was clinically and biochemically normal throughout the neonatal period. Thus, prenatal therapy of this inborn enzymatic defect can be safely and effectively accomplished by administration of pharmacologic biotin doses in the last month of pregnancy. | lld:pubmed |
| pubmed-article:6799930 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:language | eng | lld:pubmed |
| pubmed-article:6799930 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:6799930 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:6799930 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:6799930 | pubmed:issn | 0031-3998 | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:Dakshinamurti... | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:SaundersMM | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:GravelR ARA | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:YangWW | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:RothK SKS | lld:pubmed |
| pubmed-article:6799930 | pubmed:author | pubmed-author:AllanLL | lld:pubmed |
| pubmed-article:6799930 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:6799930 | pubmed:volume | 16 | lld:pubmed |
| pubmed-article:6799930 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:6799930 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:6799930 | pubmed:pagination | 126-9 | lld:pubmed |
| pubmed-article:6799930 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
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| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:meshHeading | pubmed-meshheading:6799930-... | lld:pubmed |
| pubmed-article:6799930 | pubmed:year | 1982 | lld:pubmed |
| pubmed-article:6799930 | pubmed:articleTitle | Prenatal administration of biotin in biotin responsive multiple carboxylase deficiency. | lld:pubmed |
| pubmed-article:6799930 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:6799930 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6799930 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:6799930 | lld:pubmed |
