Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset ty...
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Published in | The Journal of pediatrics Vol. 138; no. 5; pp. 735 - 740 |
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Main Authors | , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York, NY
Mosby, Inc
01.05.2001
Elsevier |
Subjects | |
Online Access | Get full text |
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Summary: | Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease. (J Pediatr 2001;138:735-40) |
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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0022-3476 1097-6833 |
DOI: | 10.1067/mpd.2001.113264 |