Isao Ueki

Neonatal Cholestatic Liver Disease in an Asian Patient With a Homozygous Mutation in the Oxysterol 7α‐hydroxylase Gene

Isao Ueki, Akihiko Kimura, Atsushi Nishiyori et al. · Journal of Pediatric Gastroenterology and Nutrition · 2008 · 72 citations

Medicine, Genetics, Pediatrics +17

Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient

Tatsuki Mizuochi, Akihiko Kimura, Mitsuyoshi Suzuki et al. · Liver Transplantation · 2011 · 41 citations

Medicine, Biochemistry, Genetics +17

<i>SRD5B1</i> gene analysis needed for the accurate diagnosis of primary 3‐oxo‐Δ⁴‐steroid 5β‐reductase deficiency

Isao Ueki, Akihiko Kimura, Huey‐Ling Chen et al. · Journal of Gastroenterology and Hepatology · 2008 · 40 citations

Medicine, Genetics, Molecular Genetics +17

Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis

Isao Ueki, Yasutoshi Koga, Nataliya Povalko et al. · Mitochondrion · 2005 · 38 citations

Life Sciences, Genetics, Molecular Genetics +15

Absence of Renal Fructose-1-phosphate Aldolase Activity in Hereditary Fructose Intolerance

R. Curtis Morris, Isao Ueki, Dana Loh et al. · Nature · 1967 · 35 citations

Life Sciences, Biochemistry, Genetics +14