Y Okano

Osaka City University — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

14h-index638citations31works0.02yr avg
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Research Topics

Metabolism and Genetic Disorders(27), Folate and B Vitamins Research(11), Biochemical and Molecular Research(9), Diet and metabolism studies(3), Amino Acid Enzymes and Metabolism(3)

Publications31 total

Galactokinase Deficiency
SpringerReference·2012
Reduced carbohydrate intake in citrin‐deficient subjects
Journal of Inherited Metabolic Disease·2008· 63 cited
[Biopterin synthesis deficiency (involv. DHPR deficiency)].
PubMed·2001
[Phenylketonuria].
PubMed·2001
Bone mineral density of the lumbar spine in very-low-birth-weight infants: a longitudinal study
European Journal of Pediatrics·2000· 17 cited
Molecular characterization of galactokinase deficiency in Japanese patients
Journal of Human Genetics·1999· 30 citedOpen Access
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients
Journal of Human Genetics·1999· 20 citedOpen Access
Mass screening of galactosemia: improved Beutler Test using automated quantitative fluorescence assay.
PubMed·1999
Molecular characterization of phenylketonuria in Japanese patients
Human Genetics·1998· 50 cited
[Galactose-1-phosphate uridyltransferase deficiency].
PubMed·1998· 3 cited
[UDP-galactose-4-epimerase deficiency].
PubMed·1998
Short tandem repeat polymorphisms in Japanese families with phenylketonuria
Journal of Inherited Metabolic Disease·1996· 1 cited
Newborn mass screening and molecular genetics of phenylketonuria in east Asia.
PubMed·1995
Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts
Human Molecular Genetics·1994· 24 cited
Molecular and population genetics of phenylketonuria in Orientals: Correlation between phenotype and genotype
Journal of Inherited Metabolic Disease·1994· 12 cited
Multiple origins for phenylketonuria in Europe.
PubMed·1992· 85 cited
[DNA diagnosis for inherited metabolic disorders].
PubMed·1992
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
Proceedings of the National Academy of Sciences·1991· 45 citedOpen Access
A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia
European Journal of Pediatrics·1991· 32 cited
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
PubMed·1991· 21 cited
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Frequent Co-authors

Gen Isshiki(12), Yutaka Hase(10), Randy C. Eisensmith(7), Toshiaki Oura(6), T Oura(5), Y T Zeng(4), Wilson H.Y. Lo(4), Haruo Shintaku(4), Savio L.C. Woo(3), S Z Huang(3), I. Suyama(3), T. Tsuruhara(3), M. Dasovich(2), T Wang(2), F. Güttler(2), T. Wang(2), Youngbo Kang(2), T Wang(2), S L Woo(2), Toshihiro Imamura(2)