Yumi Hayashida

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

Yasuhiro Indo, Motoko Tsuruta, Yumi Hayashida et al. · Nature Genetics · 1996 · 634 citations

Trka/ngf Receptor Gene, Pain Syndrome, Pain Disorders +6

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex

Motoko Tsuruta, Hiroshi Mitsubuchi, Sek Mardy et al. · Journal of Human Genetics · 1998 · 29 citations

Biochemistry, E2 Gene, Natural Sciences +10

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

Yoshitaka Nobukini, Hiroshi Mitsubuchi, Yumi Hayashida et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1993 · 22 citations

Cellular Enzymology, Biochemistry, Medicine +9

Deficiency of the E1β subunit in the branched-chain α-keto acid dehydrogenase complex due to a single base substitution to the intron 5, resulting in two alternatively spliced mRNAs in patient with maple syrup urine disease

Yumi Hayashida, Hiroshi Mitsubuchi, Yasuhiro Indo et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1994 · 18 citations

Intron 5, Cellular Enzymology, Single Base Substitution +8