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Publications by Masahiro Kibayashi
Mutation Analysis of the Phenylalanine Hydroxylase Gene and Its Clinical Implications in Two Japanese Patients With Non-Phenylketonuria Hyperphenylalaninemia
Journal of Human Genetics
Genetics
Related publications
Genetic Analysis of Two Japanese Patients With Non-Classical 21-Hydroxylase Deficiency
Internal Medicine
Internal Medicine
Medicine
Analysis of Phenylalanine Hydroxylase Genotypes and Hyperphenylalaninemia Phenotypes Using L-[1-13C]Phenylalanine Oxidation Rates in Vivo: A Pilot Study1
Pediatric Research
Child Health
Pediatrics
Perinatology
Analysis of Steroid 21-Hydroxylase Gene in Five Unrelated Japanese Patients With 21-Hydroxylase Deficiency
Endocrinologia Japonica
Tetrahydrobiopterin Responsiveness of Patients With Phenylalanine Hydroxylase Deficiency
Jornal de Pediatria
Child Health
Pediatrics
Perinatology
Expression of Phenylalanine Hydroxylase (PAH) in Erythrogenic Bone Marrow Does Not Correct Hyperphenylalaninemia inPahenu2 Mice
Journal of Gene Medicine
Molecular Medicine
Drug Discovery
Genetics
Molecular Biology
Therapeutic Implication of L-Phenylalanine Aggregation Mechanism and Its Modulation by D-Phenylalanine in Phenylketonuria
Scientific Reports
Multidisciplinary
Maternal Phenylketonuria and Hyperphenylalaninemia. A Prospective Study
Pediatric Research
Child Health
Pediatrics
Perinatology
Pharmacokinetics of Orally Administered Tetrahydrobiopterin in Patients With Phenylalanine Hydroxylase Deficiency
Journal of Inherited Metabolic Disease
Genetics
Analysis of Clinical Characteristics of Breast Cancer Patients With the Japanese Founder Mutation BRCA1 L63X
Oncotarget
Oncology
