Multiple origins for phenylketonuria in Europe.

Randy C. Eisensmith, Y Okano, M. Dasovich, +7

PubMed

Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Y Okano, T. Wang, Randy C. Eisensmith, +3

PubMed

Reduced carbohydrate intake in citrin‐deficient subjects

Takeyori Saheki, Kazuya Kobayashi, Mutsumi Terashi, +8

Journal of Inherited Metabolic Disease

Molecular characterization of phenylketonuria in Japanese patients

Y Okano, Minoru Asada, Youngbo Kang, +4

Human Genetics

Renal FunctionRenal PathologyPathologyMedicineNephrology +1

Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

T Wang, Y Okano, Randy C. Eisensmith, +7

Proceedings of the National Academy of Sciences

GeneticsGenetic EpidemiologyHuman PolymorphismPathologyMolecular Biology +18

Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

T Wang, Y Okano, Randy C. Eisensmith, +4

PubMed

Recurrent mutation in the human phenylalanine hydroxylase gene.

Y Okano, T. Wang, Randy C. Eisensmith, +2

PubMed

A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia

Y Okano, Randy C. Eisensmith, M. Dasovich, +3

European Journal of Pediatrics

Mendelian DisorderPrevalent Missense MutationGenetic DisorderGeneticsInherited Metabolic Disease +9

Molecular characterization of galactokinase deficiency in Japanese patients

Masahiro Asada, Y Okano, Toshihiro Imamura, +3

Journal of Human Genetics

Autoimmune DiseaseDisease MechanismPathogenesisPathologyGalactokinase Deficiency +2

Molecular characterization of phenylketonuric mutations in Japanese by analysis of phenylalanine hydroxylase mRNA from lymphoblasts

Y Okano, Yutaka Hase, Haruo Shintaku, +4

Human Molecular Genetics

GeneticsMolecular BiologyPathologyMolecular GeneticsDisease Gene Identification +23