id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_2aqu5ez7dzcw7lfmf4woz3okj4	P S Kedar	First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation	2007.0	6	.pdf	application/pdf	2306	211	61	First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. Red cell pyruvate kinase (PK, EC.2.7.1.40) deficiency is the most common enzyme abnormality in the Embden Meyerhoff pathway of glycolysis in humans. Prenatal diagnosis can be done accurately by analyzing fetal DNA for the mutation causing the enzyme deficiency. mutations in the PKLR gene in a nine-year-old child with severe PK deficiency and identified a homozygous GA substitution at nucleotide 1436, changing arginine to histidine varied; however, once the mutation in the parents and an affected child born earlier is characterized, prenatal diagnosis can be easily done in the first trimester of pregnancy by CVS and Prenatal diagnosis of pyruvate kinase deficiency due to a codon 479 (1436GA) mutation. Prenatal diagnosis of pyruvate kinase deficiency.	./cache/work_2aqu5ez7dzcw7lfmf4woz3okj4.pdf	./txt/work_2aqu5ez7dzcw7lfmf4woz3okj4.txt