Izumi Akaboshi

Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

Yasuhiro Indo, Akito Kitano, F. Endo et al. · Journal of Clinical Investigation · 1987 · 57 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +11

Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.

Akira Hata, Chiaki Setoyama, Kazunori Shimada et al. · PubMed · 1989 · 39 citations

Life Sciences, Genetics, Molecular Genetics +13

Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.

Yoshitaka Nobukuni, Hiroshi Mitsubuchi, Izumi Akaboshi et al. · Journal of Clinical Investigation · 1991 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

Akira Hata, Toshinobu Matsuura, Chiaki Setoyama et al. · Human Genetics · 1991 · 34 citations

Life Sciences, Genetics, Molecular Genetics +15

UNIQUE PATTERN OF EPSTEIN-BARR VIRUS SPECIFIC ANTIBODIES IN RECURRENT PAROTITIS

Izumi Akaboshi, Jiro Jamamoto, Takato Katsuki et al. · The Lancet · 1983 · 34 citations

Life Sciences, Immunology, Infectious Diseases +7