R
Robert W. Mason
Researcher at Alfred I. duPont Hospital for Children
Publications - 79
Citations - 3705
Robert W. Mason is an academic researcher from Alfred I. duPont Hospital for Children. The author has contributed to research in topics: Enzyme replacement therapy & Newborn screening. The author has an hindex of 31, co-authored 78 publications receiving 3107 citations. Previous affiliations of Robert W. Mason include Thomas Jefferson University & Delaware Biotechnology Institute.
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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.
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Structural Basis for the Biological Specificity of Cystatin C IDENTIFICATION OF LEUCINE 9 IN THE N-TERMINAL BINDING REGION AS A SELECTIVITY-CONFERRING RESIDUE IN THE INHIBITION OF MAMMALIAN CYSTEINE PEPTIDASES
TL;DR: The structural basis for the biological specificity of human cystatin C has been investigated, and interactions from the side chains of residues in the N-terminal binding region and Trp-106 are jointly responsible for the major part of cyStatin C affinity for cathepsin L and are also of considerable importance for cat hepsin B and H affinity.
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Newborn screening and diagnosis of mucopolysaccharidoses
Shunji Tomatsu,Tadashi Fujii,Masaru Fukushi,Toshihiro Oguma,Tsutomu Shimada,Miho Maeda,Kazuhiro Kida,Yuniko Shibata,Hideyuki Futatsumori,Adriana M. Montaño,Robert W. Mason,Seiji Yamaguchi,Yasuyuki Suzuki,Tadao Orii +13 more
TL;DR: The findings show that the combined measurements of these three GAGs are sensitive and specific for detecting all types of MPS with acceptable false negative/positive rates, and this method will also be used for monitoring therapeutic efficacy.
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Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
Madeleine Taylor,Madeleine Taylor,Shaukat Khan,Molly Stapleton,Molly Stapleton,Jianmin Wang,Jing Chen,Robert Wynn,Hiromasa Yabe,Yasutsugu Chinen,Jaap Jan Boelens,Robert W. Mason,Robert W. Mason,Francyne Kubaski,Dafne Dain Gandelman Horovitz,Anneliese Lopes Barth,Marta Serafini,Maria Ester Bernardo,Hironori Kobayashi,Kenji E. Orii,Yasuyuki Suzuki,Tadao Orii,Shunji Tomatsu +22 more
TL;DR: The efficacy, side effects, risks, and cost of HSCT for each type of MPS is summarized.
Journal ArticleDOI
Glycosaminoglycans detection methods: Applications of mass spectrometry.
Francyne Kubaski,Harumi Osago,Robert W. Mason,Robert W. Mason,Seiji Yamaguchi,Hironori Kobayashi,Mikako Tsuchiya,Tadao Orii,Shunji Tomatsu +8 more
TL;DR: A history of development of GAG assays and insights about the use of tandem mass spectrometry and its applications for GAG analysis are provided.