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Journal of Pediatric Gastroenterology and Nutrition|July 1, 1990
Oral supplementation of vitamin K for pregnant women and effects on levels of plasma vitamin K and PIVKA-II in the neonateK Motohara, S Takagi, F Endo, et al.Journal of Human Genetics|March 18, 2000
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiencyS Kikuchi, A Tanoue, F Endo, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneityA Kitano, F Endo, I Matsuda, et al.The Journal of Clinical Investigation|May 1, 1993
Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicingR Hoshide, T Matsuura, Y Haraguchi, et al.Gastroenterology|June 1, 1996
Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosusT Uchino, F Endo, S Ikeda, et al.The Journal of Clinical Investigation|April 1, 1991
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this regionH Mitsubuchi, Y Nobukuni, I Akaboshi, et al.The Journal of Clinical Investigation|July 1, 1990
Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this diseaseY Nobukuni, H Mitsubuchi, F Endo, et al.Gene|November 15, 1991
Cloning and sequence of a cDNA encoding human carbamyl phosphate synthetase I: molecular analysis of hyperammonemiaY Haraguchi, T Uchino, M Takiguchi, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemiaA Kitano, F Endo, Y Kuroda, et al.Kidney International|November 1, 1993
Identification of a single base insertion in the COL4A5 gene in Alport syndromeH Nakazato, S Hattori, T Matsuura, et al.Pageof 50