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 |
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New York, NY
Mosby, Inc
01.05.2001
Elsevier |
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Abstract | 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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AbstractList | 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. 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) |
Author | Yasuda, Tomotsugu Nishinomiya, Fujihiko Saheki, Takeyori Ohura, Toshihiro Kono, Yumi Yamashita, Mariko Tazawa, Yusaku Kobayashi, Keiko Nagata, Ikuo Hosoda, Yoshito Abukawa, Daiki Yamaguchi, Naoki |
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Keywords | CTLN2 ASS Human Disease development Jaundice Carbon-nitrogen ligases Enzyme Metabolic diseases Argininosuccinate synthase Infant Urea cycle Biliary tract disease Enzymopathy Genetic determinism Genetic disease Case study Gene Ligases Cholostasis Citrullinemia Digestive diseases Adult Mutation Aminoacid disorder |
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Snippet | Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is... |
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SubjectTerms | Aminoacid disorders Biological and medical sciences Biopsy Cholestasis - complications Citrullinemia - complications Citrullinemia - pathology Errors of metabolism Female Humans Infant, Newborn Jaundice, Neonatal - complications Liver - pathology Medical sciences Metabolic diseases Molecular Sequence Data |
Title | Infantile cholestatic jaundice associated with adult-onset type II citrullinemia |
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