F. Endo

Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene.

T. Mizukami, H. Nunoi, S. Kanegasaki, 2001, Blood.

Pharmacokinetics, safety, and tolerability of sodium phenylacetate and sodium benzoate in healthy Japanese volunteers: A phase I, single-center, open-label study.

K. Shimizu, Kimitoshi Nakamura, Emiko Koumura, 2022, Drug metabolism and pharmacokinetics.

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

H. Mitsubuchi, Jun Kido, Kimitoshi Nakamura, 2018, Metabolic Brain Disease.

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

S. Hirose, Takahito Inoue, Jun Kido, 2019, Journal of Human Genetics.

4th Amino Acid Assessment Workshop Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

H. Mitsubuchi, M. Owada, F. Endo, 2005 .

Urea cycle disorders—update

F. Endo, H. Mitsubuchi, J. Häberle, 2019, Journal of Human Genetics.

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases.

S. Kölker, M. Summar, F. Endo, 2014, Molecular genetics and metabolism.

Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

S. Ikeda, Katsuya Nakamura, M. Ota, 2017, Journal of Human Genetics.

Newborn screening for lysosomal storage disorders

Kimitoshi Nakamura, K. Hattori, F. Endo, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.