Molecular genetic and bile acid profiles in two japanese patients with 3β-hydroxy-δ5-c27-steroid dehydrogenase/ isomerase deficiency

Pediatric Research

Volumn 68, Issue 3, 2010, Pages 258-263

  Mizuochi, Tatsuki ^a   Kimura, Akihiko ^a   Ueki, Isao ^a   Takahashi, Tomoyuki ^a   Hashimoto, Takuji ^b   Takao, Akira ^c   Seki, Yoshitaka ^a   Takei, Hajime ^d   Nittono, Hiroshi ^d   Kurosawa, Takao ^e   Matsuishi, Toyojiro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Gifu Municipal Hospital   (Japan)

^d Junshin Clinic   (Japan)

^e HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE; BILE ACID; CHENODEOXYCHOLIC ACID; DISOFENIN TC 99M; GENOMIC DNA; URSODEOXYCHOLIC ACID;

3BETA HYDROXY DELTA5 STEROID DEHYDROGENASE DEFICIENCY; ALLELE; ARTICLE; BILE ACID BLOOD LEVEL; CASE REPORT; CHOLESTASIS; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYPERBILIRUBINEMIA; INBORN ERROR OF STEROID METABOLISM; INFANT; JAPANESE; JAUNDICE; LIVER BIOPSY; LIVER DYSFUNCTION; LIVER FUNCTION TEST; MALE; MASS FRAGMENTOGRAPHY; PERIPHERAL LYMPHOCYTE; PRIORITY JOURNAL; URINALYSIS;

3-HYDROXYSTEROID DEHYDROGENASES; BASE SEQUENCE; BILE ACIDS AND SALTS; CHENODEOXYCHOLIC ACID; CHOLESTASIS; DNA PRIMERS; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; JAPAN; LIVER; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 77955635514     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/PDR.0b013e3181eb0188     Document Type: Article

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