Takashi Hamazaki

机构：Osaka City University, Osaka University Hospital, Osaka City University Hospital, Osaka Metropolitan University, Tokyo Metropolitan University, The University of Osaka

发表论文 240 篇 · 总被引 8017 次 · h-index 35

代表论文

• Global considerations for lifelong management and therapeutic development for phenylketonuria (2025 · Genetics in Medicine · 被引 6)
• Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: Interim results from the phase 3 APHENITY Extension Study (2026 · Genetics in Medicine · 被引 5)
• Age‐Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria (2026 · Journal of Inherited Metabolic Disease · 被引 2)
• Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy (2025 · Orphanet Journal of Rare Diseases · 被引 2)
• A novel mouse model of cholesteryl ester storage disorder with Lipa exon 8 splicing junction mutation (2026 · Scientific Reports)
• Long‐Term Efficacy and Safety of Glycerol Phenylbutyrate in Japanese Patients With Urea Cycle Disorders: Results From a Phase 3 Switch‐Over and 12‐Month Extension Study (2026 · JIMD Reports)