Mitsuharu Kajita

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

Yukio Tanizawa, Kazuhiro Matsuda, Michinori Matsuo et al. · Diabetes · 2000 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada et al. · American Journal of Medical Genetics Part A · 2014 · 45 citations

Life Sciences, Genetics, Molecular Genetics +17

Quantification of serum 1,5-anhydroglucitol in uremic and diabetic patients by liquid chromatography/mass spectrometry

Takashi Niwa, Louise A. Dewald, Jun Sone et al. · Clinical Chemistry · 1994 · 44 citations

Medicine, Biochemistry, Nephrology +9

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

Toshinobu Matsuura, Ryuuji Hoshide, Chiaki Setoyama et al. · Human Genetics · 1993 · 42 citations

Life Sciences, Genetics, Molecular Genetics +10

Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

M. Takayanagi, Shuichi KURE, Yasushi Sakata et al. · Human Genetics · 2000 · 40 citations

Life Sciences, Genetics, Molecular Genetics +11