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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|August 9, 2013
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 casesAkari Nakamura-Utsunomiya, Satoshi Okada, Keiichi Hara, et al.
Clinical Journal of Gastroenterology|June 10, 2017
Late-onset ornithine transcarbamylase deficiency associated with hyperammonemiaKana Daijo, Tomokazu Kawaoka, Takashi Nakahara, et al.
International Journal of Neonatal Screening|July 21, 2021
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine RemethylationReiko Kagawa, Go Tajima, Takako Maeda, et al.
Molecular Genetics and Metabolism|March 8, 2016
Significance of ACADM mutations identified through newborn screening of MCAD deficiency in JapanKeiichi Hara, Go Tajima, Satoshi Okada, 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.
Brain Pathology (Zurich, Switzerland)|June 25, 2016
Adipsic hypernatremia without hypothalamic lesions accompanied by autoantibodies to subfornical organTakeshi Y Hiyama, Akari N Utsunomiya, Masahito Matsumoto, 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.
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