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rdf:type |
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lifeskim:mentions |
umls-concept:C0008059,
umls-concept:C0026882,
umls-concept:C0205210,
umls-concept:C0268312,
umls-concept:C0332307,
umls-concept:C0439849,
umls-concept:C0445223,
umls-concept:C1412071,
umls-concept:C1552599,
umls-concept:C1704787,
umls-concept:C2348519,
umls-concept:C2717879
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|
pubmed:issue |
1
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|
pubmed:dateCreated |
2010-12-17
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|
pubmed:abstractText |
The aim of the study was to estimate the frequency of ABCB4 mutations among children with chronic intrahepatic cholestasis with elevated gamma-glutamyl-transpeptidase (?-GT) activity and to characterize the genotypes with respect to severity of symptoms, response to ursodeoxycholic acid therapy, and outcome.
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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 |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
73-83
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pubmed:meshHeading |
pubmed-meshheading:21119540-Adolescent,
pubmed-meshheading:21119540-Alleles,
pubmed-meshheading:21119540-Child,
pubmed-meshheading:21119540-Child, Preschool,
pubmed-meshheading:21119540-Cholestasis, Intrahepatic,
pubmed-meshheading:21119540-Codon, Nonsense,
pubmed-meshheading:21119540-Disease Progression,
pubmed-meshheading:21119540-Exons,
pubmed-meshheading:21119540-Female,
pubmed-meshheading:21119540-Frameshift Mutation,
pubmed-meshheading:21119540-Genotype,
pubmed-meshheading:21119540-Humans,
pubmed-meshheading:21119540-Infant,
pubmed-meshheading:21119540-Italy,
pubmed-meshheading:21119540-Liver Cirrhosis,
pubmed-meshheading:21119540-Male,
pubmed-meshheading:21119540-Phenotype,
pubmed-meshheading:21119540-Polymorphism, Single Nucleotide,
pubmed-meshheading:21119540-Severity of Illness Index,
pubmed-meshheading:21119540-Statistics, Nonparametric,
pubmed-meshheading:21119540-Treatment Outcome,
pubmed-meshheading:21119540-Ursodeoxycholic Acid,
pubmed-meshheading:21119540-gamma-Glutamyltransferase
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pubmed:year |
2011
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pubmed:articleTitle |
Clinical features and genotype-phenotype correlations in children with progressive familial intrahepatic cholestasis type 3 related to ABCB4 mutations.
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pubmed:affiliation |
Department of Pediatrics, Fondazione IRCCS CA' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. carla.colombo@unimi.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
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