pubmed-article:2378359 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C0442027 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C0019881 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C0268483 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C0268490 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C2587213 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C1708715 | lld:lifeskim |
pubmed-article:2378359 | lifeskim:mentions | umls-concept:C2346689 | lld:lifeskim |
pubmed-article:2378359 | pubmed:issue | 2 | lld:pubmed |
pubmed-article:2378359 | pubmed:dateCreated | 1990-9-4 | lld:pubmed |
pubmed-article:2378359 | pubmed:abstractText | Homogentisic acid (HGA) (50 mg/kg) was given orally to 22 obligate heterozygotes for hereditary tyrosinemia type 1 (HT) and to 11 controls. After 1 h the mean +/- standard error (SE) plasma level of HGA was 30.42 +/- 1.41 micrograms/ml in carriers and 19.29 +/- 1.62 in controls. Mean +/- SE fasting delta-amino-levulinate dehydratase (delta-ALD) was 40.05 +/- 1.79 m microM/min/g Hb in carriers, much lower than the 60.81 +/- 5.11 found in controls. After 3 h this difference in levels of delta-ALD remained, with mean +/- SE values of 25.70 +/- 2.89 m microM/min/g Hb in carriers, compared with 48.83 +/- 5.37 in controls. Three-hour mean +/- SE excretion of fumarylacetone "equivalent" [FAc] in urine in carriers, 51.597 +/- 5.580 micrograms/mg/creatinine, was significantly higher than the 27.941 +/- 5.916 in controls. Three-hour excretion of succinylacetone "equivalent" [SAc] was also significantly higher in the urine of carriers. FAc in 3-h urine was identified by thin-layer chromatography and confirmed by gas chromatography/mass spectrometry. Multivariate stepwise discriminant analysis showed that the inclusion order of significant variables was as follows: HGA levels at 1 hr, fasting level of delta-ALD, residual level of HGA at 3 h, and 3-h excretion of [FAc]. Non-significant variables were HGA tolerance, levels of delta-ALD at 3 h, sex, and 3-h excretion of [SAc].(ABSTRACT TRUNCATED AT 250 WORDS) | lld:pubmed |
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pubmed-article:2378359 | pubmed:language | eng | lld:pubmed |
pubmed-article:2378359 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2378359 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:2378359 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2378359 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2378359 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:2378359 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:2378359 | pubmed:month | Aug | lld:pubmed |
pubmed-article:2378359 | pubmed:issn | 0002-9297 | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:LabergeCC | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:GrenierAA | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:GagnéRR | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:LescaultAA | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:HalketJJ | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:GadboisPP | lld:pubmed |
pubmed-article:2378359 | pubmed:author | pubmed-author:MorrisetteJJ | lld:pubmed |
pubmed-article:2378359 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:2378359 | pubmed:volume | 47 | lld:pubmed |
pubmed-article:2378359 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:2378359 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:2378359 | pubmed:pagination | 329-37 | lld:pubmed |
pubmed-article:2378359 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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pubmed-article:2378359 | pubmed:meshHeading | pubmed-meshheading:2378359-... | lld:pubmed |
pubmed-article:2378359 | pubmed:year | 1990 | lld:pubmed |
pubmed-article:2378359 | pubmed:articleTitle | Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I. | lld:pubmed |
pubmed-article:2378359 | pubmed:affiliation | Department of Genetic Medicine, Laval University Medical Centre, Ste-Foy, Quebec, Canada. | lld:pubmed |
pubmed-article:2378359 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:2378359 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |