Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, +10

Zhongguo dangdai erke zazhi

BiosynthesisBiochemical GeneticsBiochemistryMetabolism

Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria

Yoshiyuki Okano, Randy C. Eisensmith, Flemming Güttler, +8

New England Journal of Medicine

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

Akiko Tamamori, Yoshiyuki Okano, Hajime Ozaki, +7

European Journal of Pediatrics

Severe Hepatic DysfunctionHepatologyBiliary TractNeonatal Intrahepatic CholestasisLiver Physiology +10

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene

Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, +10

Pediatric Research

BiochemistryNatural SciencesInherited Metabolic DiseaseLong-term TreatmentMolecular Biology +2

Experimental evidence that phenylalanine is strongly associated to oxidative stress in adolescents and adults with phenylketonuria

Yoshitami Sanayama, Hironori Nagasaka, Masaki Takayanagi, +13

Molecular Genetics and Metabolism

Experimental EvidencePhysiologyMetabolismMedicineOxidative Stress

A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, “Osaka,” in Asians

Yoshiyuki Okano, Minoru Asada, Akie Fujimoto, +10

The American Journal of Human Genetics

BiologyOcular DiseaseOphthalmologyGeneticsGenetic Epidemiology +5

Diffusion-weighted MR Imaging in Patients with Phenylketonuria: Relationship between Serum Phenylalanine Levels and ADC Values in Cerebral White Matter

Kinuko Kono, Yoshiyuki Okano, Keiko Nakayama, +5

Radiology

Quantitative Beutler Test for Newborn Mass Screening of Galactosemia Using a Fluorometric Microplate Reader

Akie Fujimoto, Yoshiyuki Okano, Tomiko Miyagi, +2

Clinical Chemistry

Missense mutations prevalent in orientals with phenylketonuria: Molecular characterization and clinical implications

Tao Wang, Yoshiyuki Okano, Randy C. Eisensmith, +6

Genomics

Molecular CharacterizationClinical ImplicationsGenetic DisorderGeneticsPathology +5

Human UDP-Galactose 4′ Epimerase (GALE) Gene and Identification of Five Missense Mutations in Patients with Epimerase-Deficiency Galactosemia

Patrizia Maceratesi, Natalie Daude, Bruno Dallapiccola, +4

Molecular Genetics and Metabolism

GeneticsGlycobiologyMolecular BiologyPathologyMolecular Genetics +4