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Your search keyword '"Nishinomiya, F"' showing total 2 results
Start Over Author "Nishinomiya, F" Journal journal of pediatrics
2 results on '"Nishinomiya, F"'

1. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia.

Author

Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, and Saheki T

Subjects
Biopsy, Citrullinemia pathology, Female, Humans, Infant, Newborn, Liver pathology, Molecular Sequence Data, Cholestasis complications, Citrullinemia complications, Jaundice, Neonatal complications
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.

Published
2001
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