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Pediatric Transplantation|December 14, 2011
Living-donor liver transplantation for propionic acidemiaMureo Kasahara, Seisuke Sakamoto, Hiroyuki Kanazawa, et al.Orphanet Journal of Rare Diseases|October 5, 2018
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testingSunita Bijarnia-Mahay, Johannes Häberle, Anil B Jalan, et al.Molecular Genetics and Metabolism|April 11, 2022
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screeningYoshimitsu Osawa, Hironori Kobayashi, Go Tajima, et al.Journal of Human Genetics|September 19, 2014
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentationToshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, et al.Modern Rheumatology|February 17, 2018
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristicsTakayuki Tanaka, Kohei Yoshioka, Ryuta Nishikomori, et al.Brain & Development|September 26, 2015
Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric casesKenji Yamada, Hironori Kobayashi, Ryosuke Bo, et al.Molecular Genetics and Metabolism Reports|June 28, 2018
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screeningNaoaki Shibata, Yuki Hasegawa, Kenji Yamada, et al.Pediatric Research|August 6, 2004
Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiencyAkiko Tamamori, Akie Fujimoto, Yoshiyuki Okano, et al.Molecular Genetics and Metabolism|August 13, 2017
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivityGo Tajima, Keiichi Hara, Miyuki Tsumura, et al.Journal of Human Genetics|September 30, 2018
A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomniaTaku Miyagawa, Seik-Soon Khor, Hiromi Toyoda, et al.Pageof 7