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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2009-12-25
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pubmed:abstractText |
We studied the clinical features of children with 3beta-hydroxy-Delta 5-C27-steroid dehydrogenase (3beta-HSDH) deficiency presenting to King's College and Great Ormond Street hospitals between 1989 and 2005. The diagnosis was made biochemically by detection of sulphated dihydroxycholenoic acids and trihydroxycholenoic acids in urine by fast atom bombardment mass spectrometry or electrospray ionisation tandem mass spectrophotometry and a plasma bile acid profile showing absent or low cholic and chenodeoxycholic acid levels and high concentrations of 3beta-7 alpha-dihydroxy-5-cholenoic acid and 3beta-7 alpha-12 alpha-trihydroxy-5-cholenoic acid.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1536-4801
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
61-6
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pubmed:meshHeading |
pubmed-meshheading:19915491-3-Hydroxysteroid Dehydrogenases,
pubmed-meshheading:19915491-Avitaminosis,
pubmed-meshheading:19915491-Bile Acids and Salts,
pubmed-meshheading:19915491-Chenodeoxycholic Acid,
pubmed-meshheading:19915491-Child,
pubmed-meshheading:19915491-Child, Preschool,
pubmed-meshheading:19915491-Cholestasis,
pubmed-meshheading:19915491-Cholic Acid,
pubmed-meshheading:19915491-Female,
pubmed-meshheading:19915491-Humans,
pubmed-meshheading:19915491-Infant,
pubmed-meshheading:19915491-Liver,
pubmed-meshheading:19915491-Male,
pubmed-meshheading:19915491-Spectrometry, Mass, Electrospray Ionization,
pubmed-meshheading:19915491-Steatorrhea,
pubmed-meshheading:19915491-Steroid Metabolism, Inborn Errors
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pubmed:year |
2010
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pubmed:articleTitle |
Variable clinical spectrum of the most common inborn error of bile acid metabolism--3beta-hydroxy-Delta 5-C27-steroid dehydrogenase deficiency.
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pubmed:affiliation |
Paediatric Liver Service, Great Ormond Street Hospital for Children, London, UK.
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pubmed:publicationType |
Journal Article
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