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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 |
2003-1-3
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pubmed:abstractText |
Inborn errors of bile acid metabolism may present as neonatal cholestasis and fat-soluble vitamin malabsorption or as late onset chronic liver disease. Our aim was to fully characterize a defect in bile acid synthesis in a 2-week-old African-American girl presenting with coagulopathy, vitamin D and E deficiencies, and mild cholestasis and in her sibling, whose liver had been used for orthotopic liver transplantation (OLT).
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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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 |
0016-5085
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
124
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
217-32
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12512044-Bile,
pubmed-meshheading:12512044-Bile Acids and Salts,
pubmed-meshheading:12512044-Biological Markers,
pubmed-meshheading:12512044-Blood,
pubmed-meshheading:12512044-Cholestanols,
pubmed-meshheading:12512044-DNA Mutational Analysis,
pubmed-meshheading:12512044-Female,
pubmed-meshheading:12512044-Gas Chromatography-Mass Spectrometry,
pubmed-meshheading:12512044-Humans,
pubmed-meshheading:12512044-Infant, Newborn,
pubmed-meshheading:12512044-Liver Diseases,
pubmed-meshheading:12512044-Liver Transplantation,
pubmed-meshheading:12512044-Metabolism, Inborn Errors,
pubmed-meshheading:12512044-Mutation,
pubmed-meshheading:12512044-Peroxisomes,
pubmed-meshheading:12512044-Racemases and Epimerases,
pubmed-meshheading:12512044-Spectrometry, Mass, Fast Atom Bombardment,
pubmed-meshheading:12512044-Urine
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pubmed:year |
2003
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pubmed:articleTitle |
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
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pubmed:affiliation |
Division of Clinical Mass Spectrometry, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. Kenneth_setchell@chmcc.org
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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