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