Papers
4
Total Citations
75
H-Index
4
About
Dr. Seiji Yamaguchi is a pioneering researcher in the fields of biochemical genetics and newborn screening, with a particular focus on mucopolysaccharidoses (MPS)—a group of lysosomal storage disorders. His major contributions include the development of a novel heparan sulfate assay using automated high-throughput mass spectrometry, which revolutionized the monitoring and screening of MPS. This work, cited 36 times, provides a non-invasive, rapid method for early diagnosis, enabling timely intervention. Dr. Yamaguchi also advanced tandem mass spectrometry applications for newborn screening, as highlighted in his 2014 study (24 citations), which improved detection rates for these devastating metabolic diseases. Beyond his core expertise, he has explored human-robot interaction in real-world settings (8 citations) and robotic-assisted surgical outcomes (7 citations), demonstrating interdisciplinary versatility. His research has directly impacted clinical practice, offering hope to families affected by MPS through earlier diagnosis and better disease management. Dr. Yamaguchi’s work exemplifies how translational science can bridge laboratory innovation and patient care, making him a key figure in metabolic disease research.
Research Focus
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