Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry

Journal of Pediatric Gastroenterology and Nutrition

Volumn 65, Issue 5, 2017, Pages 561-568

  Gong, Jing Yu ^a   Setchell, Kenneth D R ^b   Zhao, Jing ^c,d   Zhang, Wujuan ^b   Wolfe, Brian ^b   Lu, Yi ^c,d   Lackner, Karolin ^e   Knisely, A S ^e   Wang, Neng Li ^a   Hao, Chen Zhi ^c,d   Zhang, Mei Hong ^a   Wang, Jian She ^c,d  

^a FUDAN UNIVERSITY   (China)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^c CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^d FUDAN UNIVERSITY   (China)

^e MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

bile acid synthesis defect; bile alcohol; CYP27A1; mass spectrometry; next generation sequencing

Indexed keywords

BILE ACID; BILIRUBIN GLUCURONIDE; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CHOLESTEROL SULFATE; GLUCURONIDE; URSODEOXYCHOLIC ACID; CYP27A1 PROTEIN, HUMAN;

ARTICLE; CEREBROTENDINOUS XANTHOMATOSIS; CHOLESTASIS; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETICS; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; JAUNDICE; LIVER FAILURE; MALE; MASS SPECTROMETRY; PRIORITY JOURNAL; SANGER SEQUENCING; URINALYSIS; URINE SAMPLING; WHOLE EXOME SEQUENCING; COMPLICATION; DNA SEQUENCE; GENETIC MARKER; LIVER; LIVER TRANSPLANTATION; METABOLISM; MORTALITY; MUTATION; NEWBORN; PROCEDURES; RETROSPECTIVE STUDY; SEVERITY OF ILLNESS INDEX;

CHOLESTANETRIOL 26-MONOOXYGENASE; CHOLESTASIS; FEMALE; GENETIC MARKERS; HUMANS; INFANT, NEWBORN; LIVER; LIVER TRANSPLANTATION; MALE; MASS SPECTROMETRY; MUTATION; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 85031321291     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000001730     Document Type: Article

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