| HFE gene knockout produces mouse model of hereditary hemochromatosis XY Zhou, S Tomatsu, RE Fleming, S Parkkila, A Waheed, J Jiang, Y Fei, ... Proceedings of the National Academy of Sciences 95 (5), 2492-2497, 1998 | 618 | 1998 |
| Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of … A Waheed, S Parkkila, XY Zhou, S Tomatsu, Z Tsuchihashi, JN Feder, ... Proceedings of the National Academy of Sciences 94 (23), 12384-12389, 1997 | 460 | 1997 |
| Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis S Parkkila, A Waheed, RS Britton, BR Bacon, XY Zhou, S Tomatsu, ... Proceedings of the National Academy of Sciences 94 (24), 13198-13202, 1997 | 408 | 1997 |
| International Morquio A Registry: clinical manifestation and natural course of Morquio A disease AM Montaño, S Tomatsu, GS Gottesman, M Smith, T Orii Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2007 | 386 | 2007 |
| Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis RE Fleming, MC Migas, CC Holden, A Waheed, RS Britton, S Tomatsu, ... Proceedings of the National Academy of Sciences 97 (5), 2214-2219, 2000 | 350 | 2000 |
| Mechanism of increased iron absorption in murine model of hereditary hemochromatosis: increased duodenal expression of the iron transporter DMT1 RE Fleming, MC Migas, XY Zhou, J Jiang, RS Britton, EM Brunt, ... Proceedings of the National Academy of Sciences 96 (6), 3143-3148, 1999 | 312 | 1999 |
| Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum A Waheed, S Parkkila, J Saarnio, RE Fleming, XY Zhou, S Tomatsu, ... Proceedings of the National Academy of Sciences 96 (4), 1579-1584, 1999 | 298 | 1999 |
| Epidemiology of mucopolysaccharidoses SA Khan, H Peracha, D Ballhausen, A Wiesbauer, M Rohrbach, ... Molecular genetics and metabolism 121 (3), 227-240, 2017 | 296 | 2017 |
| Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment: a special review S Tomatsu, A M Montano, H Oikawa, D J Rowan, M Smith, L Barrera, ... Current pharmaceutical biotechnology 12 (6), 931-945, 2011 | 241 | 2011 |
| Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis RE Fleming, CC Holden, S Tomatsu, A Waheed, EM Brunt, RS Britton, ... Proceedings of the National Academy of Sciences 98 (5), 2707-2711, 2001 | 215 | 2001 |
| Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA CJ Hendriksz, P Harmatz, M Beck, S Jones, T Wood, R Lachman, ... Molecular genetics and metabolism 110 (1-2), 54-64, 2013 | 199 | 2013 |
| Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis A Waheed, JH Grubb, XY Zhou, S Tomatsu, RE Fleming, ME Costaldi, ... Proceedings of the National Academy of Sciences 99 (5), 3117-3122, 2002 | 197 | 2002 |
| Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase S Tomatsu, S Fukuda, M Masue, K Sukegawa, T Fukao, A Yamagishi, ... Biochemical and biophysical research communications 181 (2), 677-683, 1991 | 192 | 1991 |
| Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) S Tomatsu, AM Montaño, T Nishioka, MA Gutierrez, OM Peña, ... Human mutation 26 (6), 500-512, 2005 | 187 | 2005 |
| Newborn screening and diagnosis of mucopolysaccharidoses S Tomatsu, T Fujii, M Fukushi, T Oguma, T Shimada, M Maeda, K Kida, ... Molecular genetics and metabolism 110 (1-2), 42-53, 2013 | 184 | 2013 |
| Growth charts for patients affected with Morquio A disease AM Montaño, S Tomatsu, A Brusius, M Smith, T Orii American Journal of Medical Genetics Part A 146 (10), 1286-1295, 2008 | 158 | 2008 |
| Hematopoietic stem cell transplantation for mucopolysaccharidoses: past, present, and future M Taylor, S Khan, M Stapleton, J Wang, J Chen, R Wynn, H Yabe, ... Biology of Blood and Marrow Transplantation 25 (7), e226-e246, 2019 | 140 | 2019 |
| Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation Y Yamada, K Kato, K Sukegawa, S Tomatsu, S Fukuda, S Emura, ... Bone marrow transplantation 21 (6), 629-634, 1998 | 140 | 1998 |
| Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid … T Oguma, S Tomatsu, AM Montano, O Okazaki Analytical biochemistry 368 (1), 79-86, 2007 | 137 | 2007 |
| Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome) S Tomatsu, AM Montaño, VC Dung, JH Grubb, WS Sly Human mutation 30 (4), 511-519, 2009 | 135 | 2009 |
