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Human Genome Variation|March 18, 2026
Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndromeSawako Hirai, Hiroshi Mitsubuchi, Shirou Matsumoto
The Journal of Nutrition|June 3, 2005
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine diseaseHiroshi Mitsubuchi, Misao Owada, Fumio Endo
Human Genetics|March 15, 2021
A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short statureDaniela Tiaki Uehara, Hiroshi Mitsubuchi, Johji Inazawa
Respiratory Medicine Case Reports|July 7, 2018
Liposteroid and methylprednisolone combination therapy for a case of idiopathic lung hemosiderosisRieko Sakamoto, Shiro Matsumoto, Hiroshi Mitsubuchi, et al.
The Journal of Nutrition|May 22, 2007
Animal models of tyrosinemiaKimitoshi Nakamura, Yasuhiko Tanaka, Hiroshi Mitsubuchi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|July 22, 2014
Diagnosis and treatment of urea cycle disorder in JapanKimitoshi Nakamura, Jun Kido, Hiroshi Mitsubuchi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|June 17, 2014
Biochemical and clinical features of hereditary hyperprolinemiaHiroshi Mitsubuchi, Kimitoshi Nakamura, Shirou Matsumoto, et al.
The Journal of Nutrition|September 23, 2008
Inborn errors of proline metabolismHiroshi Mitsubuchi, Kimitoshi Nakamura, Shiro Matsumoto, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society|December 3, 2014
Diagnosis and treatment of hereditary tyrosinemia in JapanKimitoshi Nakamura, Shirou Matsumoto, Hiroshi Mitsubuchi, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|June 28, 2003
Monitoring method for pre- and post-liver transplantation in patients with primary hyperoxaluria type IYoshito Inoue, Hiroaki Masuyama, Hiromichi Ikawa, et al.
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