S
Shunji Tomatsu
Researcher at Alfred I. duPont Hospital for Children
Publications - 290
Citations - 11949
Shunji Tomatsu is an academic researcher from Alfred I. duPont Hospital for Children. The author has contributed to research in topics: Enzyme replacement therapy & Mucopolysaccharidosis. The author has an hindex of 52, co-authored 276 publications receiving 10710 citations. Previous affiliations of Shunji Tomatsu include Thomas Jefferson University & University of Delaware.
Papers
More filters
Journal ArticleDOI
Epidemiology of mucopolysaccharidoses
Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
TL;DR: Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.
Journal ArticleDOI
HFE gene knockout produces mouse model of hereditary hemochromatosis
Xiao Yan Zhou,Shunji Tomatsu,Robert E. Fleming,Seppo Parkkila,Abdul Waheed,Jinxing Jiang,Ying Fei,Elizabeth M. Brunt,David A. Ruddy,Cynthia E. Prass,Randall C. Schatzman,Rosemary O'Neill,Robert S. Britton,Bruce R. Bacon,William S. Sly +14 more
TL;DR: The knockout mouse model of HH will facilitate investigation into the pathogenesis of increased iron accumulation in HH and provide opportunities to evaluate therapeutic strategies for prevention or correction of iron overload.
Journal ArticleDOI
Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
Abdul Waheed,Seppo Parkkila,Xiao Yan Zhou,Shunji Tomatsu,Zenta Tsuchihashi,John N. Feder,Randall C. Schatzman,Robert S. Britton,Bruce R. Bacon,William S. Sly +9 more
TL;DR: In this article, the effects of the Cys-282→Tyr (C282Y) mutation on the cellular trafficking and degradation of the HFE protein in transfected COS-7 cells were investigated.
Journal ArticleDOI
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
Seppo Parkkila,Abdul Waheed,Robert S. Britton,Bruce R. Bacon,Xiao Yan Zhou,Shunji Tomatsu,Robert E. Fleming,William S. Sly +7 more
TL;DR: It is demonstrated by immunohistochemistry that the HFE protein is expressed in human placenta in the apical plasma membrane of the syncytiotrophoblasts, where the transferrin-bound iron is normally transported to the fetus via receptor-mediated endocytosis.
Journal ArticleDOI
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
TL;DR: This study conducted a study in which MPS IVA patients were asked to fill out a questionnaire with inquiries regarding family history, diagnosis, signs and symptoms, height, weight, surgical history, physical activity, and general complaints to provide a reference for assessment of efficacy for studies of novel therapies.