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International Journal of Neonatal Screening|November 21, 2023
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and SpecificityGo Tajima, Keiichi Hara, Miyuki Tsumura, et al.
Molecular Endocrinology (Baltimore, Md.)|October 6, 2006
Hypermetabolism of fat in V1a vasopressin receptor knockout miceMasami Hiroyama, Toshinori Aoyagi, Yoko Fujiwara, et al.
European Journal of Endocrinology|November 4, 2011
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type IITakashi Akamizu, Nobuo Sakura, Yosuke Shigematsu, et al.
Molecular Genetics and Metabolism|November 19, 2016
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluationGo Tajima, Keiichi Hara, Miyuki Tsumura, et al.
Pediatric Reports|May 4, 2018
Acute encephalopathy with biphasic seizures and late reduced diffusion associated with Streptococcus sanguinis sepsisHitoshi Awaguni, Jun Shinozuka, Shin-Ichiro Tanaka, et al.
Rheumatology International|December 14, 2011
Novel mutations of MVK gene in Japanese family members affected with hyperimmunoglobulinemia D and periodic fever syndromeTakahisa Mizuno, Hidemasa Sakai, Ryuta Nishikomori, et al.
Brain & Development|April 7, 2009
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in JapanRie Tsuburaya, Osamu Sakamoto, Natsuko Arai, et al.
The Journal of Clinical Endocrinology and Metabolism|November 19, 2010
Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short statureHiroshi Inoue, Natsumi Kangawa, Atsuko Kinouchi, et al.
International Journal of Neonatal Screening|February 23, 2024
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in JapanGo Tajima, Junko Aisaki, Keiichi Hara, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|January 16, 2013
Biotin and carnitine profiles in preterm infants in JapanShuko Tokuriki, Hisako Hayashi, Takashi Okuno, et al.
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