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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2009-8-3
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pubmed:abstractText |
We encounter hyper-3-oxo-Delta(4) bile aciduria in patients with severe cholestatic liver disease or fulminant liver failure during the neonatal period. However, simply by bile acid analysis, it is difficult to distinguish hyper-3-oxo-Delta(4) bile aciduria from primary 3-oxo-Delta(4)-steroid 5beta-reductase deficiency.
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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 |
May
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pubmed:issn |
1440-1746
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pubmed:author |
pubmed-author:ChenHuey-LingHL,
pubmed-author:IshigeTakashiT,
pubmed-author:ItohSusumuS,
pubmed-author:KageMasayoshiM,
pubmed-author:KimuraAkihikoA,
pubmed-author:KurosawaTakaoT,
pubmed-author:MaruyamaKenichiK,
pubmed-author:MatsuishiToyojiroT,
pubmed-author:NittonoHiroshiH,
pubmed-author:OleaCC,
pubmed-author:TakeiHajimeH,
pubmed-author:UekiIsaoI,
pubmed-author:YorifujiTohruT
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pubmed:issnType |
Electronic
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
776-85
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19175828-Autopsy,
pubmed-meshheading:19175828-Bile Acids and Salts,
pubmed-meshheading:19175828-Cholestasis,
pubmed-meshheading:19175828-DNA Mutational Analysis,
pubmed-meshheading:19175828-Diagnosis, Differential,
pubmed-meshheading:19175828-Fatal Outcome,
pubmed-meshheading:19175828-Female,
pubmed-meshheading:19175828-Genetic Testing,
pubmed-meshheading:19175828-Heterozygote,
pubmed-meshheading:19175828-Humans,
pubmed-meshheading:19175828-Infant, Newborn,
pubmed-meshheading:19175828-Japan,
pubmed-meshheading:19175828-Liver,
pubmed-meshheading:19175828-Male,
pubmed-meshheading:19175828-Metabolism, Inborn Errors,
pubmed-meshheading:19175828-Mutation,
pubmed-meshheading:19175828-Oxidoreductases,
pubmed-meshheading:19175828-Phenotype,
pubmed-meshheading:19175828-Predictive Value of Tests,
pubmed-meshheading:19175828-Taiwan,
pubmed-meshheading:19175828-Treatment Outcome
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pubmed:year |
2009
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pubmed:articleTitle |
SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency.
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pubmed:affiliation |
Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Multicenter Study
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