K Narisawa

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

Xue Yang, Yoko Aoki, Xue Li et al. · Human Genetics · 2001 · 64 citations

Life Sciences, Biochemistry, Genetics +16

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty‐two Japanese male patients with ornithine transcarbamylase deficiency

Iwao Matsuda, Noriyuki Nagata, Toshinobu Matsuura et al. · American Journal of Medical Genetics · 1991 · 54 citations

Life Sciences, Biochemistry, Pediatrics +17

Glycogen storage disease type Ia: Molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells

Jun Akanuma, Toshinori Nishigaki, Kunihiro Fujii et al. · American Journal of Medical Genetics · 2000 · 47 citations

Life Sciences, Genetics, Molecular Genetics +17

d-lactic acidosis in two patients with short bowel syndrome: Bacteriological analyses of the fecal flora

Toshinobu Satoh, K Narisawa, T. Konno et al. · European Journal of Pediatrics · 1982 · 43 citations

Life Sciences, Microbiology, Bacteriology +11

Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

Yoko Aoki, Yoichi Suzuki, Osamu Sakamoto et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1995 · 34 citations

Life Sciences, Genetics, Molecular Genetics +14