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American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|March 9, 2005
Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARFHidetoshi Kaneoka, Noriko Uesugi, Ayaka Moriguchi, et al.Pediatrics International : Official Journal of the Japan Pediatric Society|December 17, 2013
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infectionAkiko Yamamoto, Kimitoshi Nakamura, Shirou Matsumoto, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|February 9, 2005
Establishment of a practical enzymatic assay method for determination of isovaleryl-CoA dehydrogenase activity using high-performance liquid chromatographyGo Tajima, Nobuo Sakura, Hiroko Yofune, et al.Clinical Endocrinology|November 4, 2010
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short statureHiroshi Inoue, Natsumi Kangawa, Atsuko Kinouchi, et al.Journal of Human Genetics|March 15, 2013
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomesJun Kido, Kimitoshi Nakamura, Shirou Matsumoto, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|July 28, 2005
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in JapanGo Tajima, Nobuo Sakura, Hiroko Yofune, et al.Diagnostics (Basel, Switzerland)|October 25, 2024
Fatty Acid β-Oxidation May Be Associated with the Erythropoietin Resistance Index in Stable Patients Undergoing HaemodialysisShuhei Kidoguchi, Kunio Torii, Toshiharu Okada, et al.Journal of Inherited Metabolic Disease|December 15, 2011
Long-term outcome and intervention of urea cycle disorders in JapanJun Kido, Kimitoshi Nakamura, Hiroshi Mitsubuchi, et al.Journal of Human Genetics|May 19, 2017
Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian casesRyosuke Bo, Kenji Yamada, Hironori Kobayashi, et al.Human Genetics|April 9, 2010
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiencyKenichiro Shirao, Satoshi Okada, Go Tajima, et al.Pageof 7