Kazuki Sawamoto

Alfred I. duPont Hospital for Children

Papers

1

Total Citations

24

H-Index

1

About

Dr. Kazuki Sawamoto is a leading researcher in the field of inherited metabolic disorders, with a particular focus on mucopolysaccharidoses (MPS) and lysosomal storage diseases. His pioneering work has significantly advanced newborn screening and diagnostic methodologies, most notably through the application of tandem mass spectrometry. His landmark 2014 study, which has garnered 24 citations, established a more efficient and reliable approach for the early detection of MPS—a group of severe genetic conditions caused by deficiencies in lysosomal enzymes required to break down glycosaminoglycans (GAGs). By enabling earlier diagnosis, Dr. Sawamoto’s contributions have opened the door to timely therapeutic interventions, improving outcomes for affected children. His research bridges the critical gap between laboratory science and clinical application, directly impacting patient care. Through his innovative diagnostic strategies, Dr. Sawamoto has helped shape modern screening protocols, making him a respected figure in both biochemical genetics and pediatric medicine. His work continues to inspire new approaches for detecting and managing rare, devastating metabolic diseases.

Research Focus

Key Achievements

1
H-Index
1
Papers
24
Total Citations
24
Avg Citations/Paper
🏆 Most Cited Paper
Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry.
24 citations · 2014
📈 Most Prolific Year: 2014 (1 Papers)
🤝 Key Collaborators: 9
🏛 Institutions: Alfred I. duPont Hospital for Children

Top Papers

  1. 1

Key Collaborators

Contact & Links

Available for collaboration
Content generated · 12 days ago