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Case-99 A Case of Galactosemia, Double Heterozygous for Q188R and E308K Mutations with Early Neonatal Acute Liver Failure: PM 25552

BOOK TITLE: 101 Medical Autopsy Cases: Adult and Pediatric

Author
1. Kakkar Nandita Bharadwaj
ISBN
9789352706129
DOI
10.5005/jp/books/18173_97
Edition
1/e
Publishing Year
2019
Pages
6
Author Affiliations
1. Post Graduate Institute of Medical Education and Research, Chandigarh, India
Chapter keywords
Acute liver failure, galactosemia, coagulopathy, galactose-1-phosphate uridyl transferase, GALT, double heterozygous, E308K mutation, Q188R mutation

Abstract

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