Shunji Tomatsu, MD, PhD

Rintz, E., Higuchi, T., Kobayashi, H., Galileo, D. S., Wegrzyn, G., & Tomatsu, S. (2022). Promoter considerations in the design of lentiviral vectors for use in treating lysosomal storage diseases. Molecular Therapy - Methods and Clinical Development, 24, 71-87. doi:10.1016/j.omtm.2021.11.007

Alvarez, V. J., Bravo, S. B., Chantada-Vazquez, M. P., Colon, C., De Castro, M. J., Morales, M., & Couce, M. L. (2021). Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA. International Journal of Molecular Sciences, 22(1), 1-22. doi:10.3390/ijms22010226

Ratnagiri, M. V., Zhu, Y., Rahman, T., Theroux, M., Tomatsu, S., & Shaffer, T. H. (2021). Automated assessment of thoracic-abdominal asynchrony in patients with morquio syndrome. Diagnostics, 11(5). doi:10.3390/diagnostics11050880

Celik, B., Tomatsu, S. C., Tomatsu, S., & Khan, S. A. (2021). Epidemiology of mucopolysaccharidoses update. Diagnostics, 11(2). doi:10.3390/diagnostics11020273

Averill, L. W., Kecskemethy, H. H., Theroux, M. C., Mackenzie, W. G., Pizarro, C., Bober, M. B., & Tomatsu, S. (2021). Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatric Radiology, 51(7), 1202-1213. doi:10.1007/s00247-020-04946-0

Alvarez, J. V., Bravo, S. B., Chantada-Vazquez, M. P., Barbosa-Gouveia, S., Colon, C., Lopez-Suarez, O., & Couce, M. L. (2021). Plasma proteomic analysis in morquio a disease. International Journal of Molecular Sciences, 22(11). doi:10.3390/ijms22116165

Arunkumar, N., Vu, D. C., Khan, S., Kobayashi, H., Can, T. B. N., Oguni, T., & Tomatsu, S. (2021). Diagnosis of mucopolysaccharidoses and mucolipidosis by assaying multiplex enzymes and glycosaminoglycans. Diagnostics, 11(8). doi:10.3390/diagnostics11081347

Amendum, P. C., Khan, S., Yamaguchi, S., Kobayashi, H., Ago, Y., Suzuki, Y., & Tomatsu, S. (2021). Glycosaminoglycans as biomarkers for mucopolysaccharidoses and other disorders. Diagnostics, 11(9). doi:10.3390/diagnostics11091563

Chen, H., Khan, S., Celik, B., Suzuki, Y., Ago, Y., & Tomatsu, S. (2021). Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy. Molecular Genetics and Genomic Medicine, 9(11). doi:10.1002/mgg3.1806

Can, N. T. B., Tran, D. M., Bui, T. P., Nguyen, K. N., Nguyen, H. H., Nguyen, T. V., & Vu, D. C. (2021). Molecular analysis of vietnamese patients with mucopolysaccharidosis type i. Life, 11(11). doi:10.3390/life11111162

Sawamoto, K., Alvarez, J. V., Herreno, A. M., Otero-Espinar, F. J., Couce, M. L., Almeciga-Diaz, C. J., & Tomatsu, S. (2020). Bone-Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders. Current Osteoporosis Reports, 18(5), 515-525. doi:10.1007/s11914-020-00620-4

Sawamoto, K., Karumuthil-Melethil, S., Khan, S., Stapleton, M., Bruder, J. T., Danos, O., & Tomatsu, S. (2020). Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model. Molecular Therapy - Methods and Clinical Development, 18, 50-61. doi:10.1016/j.omtm.2020.05.015

Wolfberg, J., Chintalapati, K., Tomatsu, S., & Nagao, K. (2020). Hearing loss in mucopolysaccharidoses: Current knowledge and future directions. Diagnostics, 10(8). doi:10.3390/diagnostics10080554

Santi, L., De Ponti, G., Dina, G., Pievani, A., Corsi, A., Riminucci, M., & Serafini, M. (2020). Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model. Molecular Genetics and Metabolism, 130(3), 197-208. doi:10.1016/j.ymgme.2020.05.001

Arunkumar, N., Langan, T. J., Stapleton, M., Kubaski, F., Mason, R. W., Singh, R., & Tomatsu, S. (2020). Newborn screening of mucopolysaccharidoses: past, present, and future. Journal of Human Genetics, 65(7), 557-567. doi:10.1038/s10038-020-0744-8

Khan, S. A., Mason, R. W., Kobayashi, H., Yamaguchi, S., & Tomatsu, S. (2020). Advances in glycosaminoglycan detection. Molecular Genetics and Metabolism, 130(2), 101-109. doi:10.1016/j.ymgme.2020.03.004

Piechnik, M., Sawamoto, K., Ohnishi, H., Kawamoto, N., Ago, Y., & Tomatsu, S. (2020). Evading the AAV immune response in mucopolysaccharidoses. International Journal of Molecular Sciences, 21(10). doi:10.3390/ijms21103433

Wang, Z., Xu, Y., Jiang, E., Wang, J., Tomatsu, S., & Shen, K. (2020). Pathophysiology of hip disorders in patients with mucopolysaccharidosis IVA. Diagnostics, 10(5). doi:10.3390/diagnostics10050264

Oguni, T., Tomatsu, S., Tanaka, M., Orii, K., Fukao, T., Watanabe, J., & Kobayashi, H. (2020). Validation of liquid chromatography-tandem mass spectrometry-based 5-plex assay for mucopolysaccharidoses. International Journal of Molecular Sciences, 21(6). doi:10.3390/ijms21062025

Sosa, A. C., Kariuki, B., Gan, Q., Knutsen, A. P., Bellone, C. J., Guzman, M. A., & Montano, A. M. (2020). Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome. Journal of Clinical Investigation, 130(3), 1288-1300. doi:10.1172/JCI125607

Langan, T. J., Jalal, K., Barczykowski, A. L., Carter, R. L., Stapleton, M., Orii, K., & Tomatsu, S. (2020). Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms. In JIMD Reports (Vol 52, bll 35-42). doi:10.1002/jmd2.12093

Stapleton, M., Kubaski, F., Mason, R. W., Shintaku, H., Kobayashi, H., Yamaguchi, S., & Tomatsu, S. (2020). Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS. Molecular Genetics and Metabolism Reports, 22. doi:10.1016/j.ymgmr.2019.100563

Sawamoto, K., Gonzalez, J. V. A., Piechnik, M., Otero, F. J., Couce, M. L., Suzuki, Y., & Tomatsu, S. (2020). Mucopolysaccharidosis IVA: Diagnosis, treatment, and management. International Journal of Molecular Sciences, 21(4). doi:10.3390/ijms21041517

Viana, G. M., Priestman, D. A., Platt, F. M., Khan, S., Tomatsu, S., & Pshezhetsky, A. V. (2020). Brain pathology in mucopolysaccharidoses (MPS) patients with neurological forms. Journal of Clinical Medicine, 9(2). doi:10.3390/jcm9020396

Orii, K., Suzuki, Y., Tomatsu, S., Orii, T., & Fukao, T. (2020). Long-term follow-up posthematopoietic stem cell transplantation in a Japanese patient with type-VII mucopolysaccharidosis. Diagnostics, 10(2). doi:10.3390/diagnostics10020105

Suzuki, Y., Taylor, M., Orii, K., Fukao, T., Orii, T., & Tomatsu, S. (2020). Assessment of activity of daily life in mucopolysaccharidosis type II patients with hematopoietic stem cell transplantation. Diagnostics, 10(1). doi:10.3390/diagnostics10010046

Rodriguez-Lopez, A., Pimentel-Vera, L. N., Espejo-Mojica, A. J., Van Hecke, A., Tiels, P., Tomatsu, S., & Almeciga-Diaz, C. J. (2019). Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment. Journal of Pharmaceutical Sciences, 108(8), 2534-2541. doi:10.1016/j.xphs.2019.03.034

Sawamoto, K., Stapleton, M., Almeciga-Diaz, C. J., Espejo-Mojica, A. J., Losada, J. C., Suarez, D. A., & Tomatsu, S. (2019). Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments. Drugs, 79(10), 1103-1134. doi:10.1007/s40265-019-01147-4

Doherty, C., Stapleton, M., Piechnik, M., Mason, R. W., Mackenzie, W. G., Yamaguchi, S., & Tomatsu, S. (2019). Effect of enzyme replacement therapy on the growth of patients with Morquio A. Journal of Human Genetics, 64(7), 625-635. doi:10.1038/s10038-019-0604-6

Taylor, M., Khan, S., Stapleton, M., Wang, J., Chen, J., Wynn, R., & Tomatsu, S. (2019). Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future. Biology of Blood and Marrow Transplantation, 25(7), e226-e246. doi:10.1016/j.bbmt.2019.02.012

Fujitsuka, H., Sawamoto, K., Peracha, H., Mason, R. W., Mackenzie, W., Kobayashi, H., & Tomatsu, S. (2019). Biomarkers in patients with mucopolysaccharidosis type II and IV. Molecular Genetics and Metabolism Reports, 19. doi:10.1016/j.ymgmr.2019.100455

Stapleton, M., Hoshina, H., Sawamoto, K., Kubaski, F., Mason, R. W., Mackenzie, W. G., & Tomatsu, S. (2019). Critical review of current MPS guidelines and management. Molecular Genetics and Metabolism, 126(3), 238-245. doi:10.1016/j.ymgme.2018.07.001

Sawamoto, K., & Tomatsu, S. (2019). Development of substrate degradation enzyme therapy for mucopolysaccharidosis IVA murine model. International Journal of Molecular Sciences, 20(17). doi:10.3390/ijms20174139

Victor Alvarez, J., Bravo, S. B., Garcia-Vence, M., De Castro, M. J., Luzardo, A., Colon, C., & Couce, M. L. (2019). Proteomic analysis in morquio a cells treated with immobilized enzymatic replacement therapy on nanostructured lipid systems. International Journal of Molecular Sciences, 20(18). doi:10.3390/ijms20184610

Victor Alvarez, J., Filgueira, C. H., Gonzalez, A. L. F., Mejeras, C. C., Iglesias, A. B., Tomatsu, S., & Otero Espinar, F. J. (2019). Enzyme-loaded gel core nanostructured lipid carriers to improve treatment of lysosomal storage diseases: Formulation and in vitro cellular studies of elosulfase alfa-loaded systems. Pharmaceutics, 11(10). doi:10.3390/pharmaceutics11100522

Chen, H. H., Sawamoto, K., Mason, R. W., Kobayashi, H., Yamaguchi, S., Suzuki, Y., & Tomatsu, S. (2019). Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future. Journal of Human Genetics, 64(11), 1153-1171. doi:10.1038/s10038-019-0662-9

Gomez-Ospina, N., Scharenberg, S. G., Mostrel, N., Bak, R. O., Mantri, S., Quadros, R. M., & Porteus, M. H. (2019). Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nature Communications, 10(1). doi:10.1038/s41467-019-11962-8

Zhang, W., Kassels, A. C., Barrington, A., Khan, S., Tomatsu, S., Alkadi, T., & Aldave, A. (2019). Macular corneal dystrophy with isolated peripheral Descemet membrane deposits. American Journal of Ophthalmology Case Reports, 16. doi:10.1016/j.ajoc.2019.100571

Orii, K., Lim, A., Tomatsu, S., Stapleton, M., Suzuki, Y., Simonaro, C. M., & Matsumoto, T. (2019). Safety study of sodium pentosan polysulfate for adult patients with mucopolysaccharidosis Type II. Diagnostics, 9(4). doi:10.3390/diagnostics9040226

Morgan, J. T., Robbins, A. K., Mateson, A. B., Sawamoto, K., Tomatsu, S., Gray, D. R., & Barthold, J. S. (2018). Regional Variation in Androgen Receptor Expression and Biomechanical Properties May Contribute to Cryptorchidism Susceptibility in the LE/orl Rat. Frontiers in Endocrinology, 9. doi:10.3389/fendo.2018.00738

Almeciga-Diaz, C. J., Montano, A. M., Barrera, L. A., & Tomatsu, S. (2018). Tailoring the AAV2 capsid vector for bone-targeting. Pediatric Research, 84(4), 545-551. doi:10.1038/s41390-018-0095-8

Stapleton, M., Arunkumar, N., Kubaski, F., Mason, R. W., Tadao, O., & Tomatsu, S. (2018). Clinical presentation and diagnosis of mucopolysaccharidoses. Molecular Genetics and Metabolism, 125(1-2), 4-17. doi:10.1016/j.ymgme.2018.01.003

Khan, S. A., Mason, R. W., Giugliani, R., Orii, K., Fukao, T., Suzuki, Y., & Tomatsu, S. (2018). Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. Molecular Genetics and Metabolism, 125(1-2), 44-52. doi:10.1016/j.ymgme.2018.04.011

Peracha, H., Sawamoto, K., Averill, L., Kecskemethy, H., Theroux, M., Thacker, M., & Tomatsu, S. (2018). Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. Molecular Genetics and Metabolism, 125(1-2), 18-37. doi:10.1016/j.ymgme.2018.05.004

Osaki, Y., Saito, A., Kanemoto, S., Kaneko, M., Matsuhisa, K., Asada, R., & Imaizumi, K. (2018). Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. Cell Death and Disease, 9(8). doi:10.1038/s41419-018-0871-8

Melbouci, M., Mason, R. W., Suzuki, Y., Fukao, T., Orii, T., & Tomatsu, S. (2018). Growth impairment in mucopolysaccharidoses. Molecular Genetics and Metabolism, 124(1), 1-10. doi:10.1016/j.ymgme.2018.03.004

Nagao, K., Morlet, T., Haley, E., Padilla, J., Nemith, J., Mason, R. W., & Tomatsu, S. (2018). Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. Molecular Genetics and Metabolism, 123(4), 472-478. doi:10.1016/j.ymgme.2018.02.002

Doherty, C., Averill, L. W., Theroux, M., Mackenzie, W. G., Pizarro, C., Mason, R. W., & Tomatsu, S. (2018). Natural history of Morquio A patient with tracheal obstruction from birth to death. Molecular Genetics and Metabolism Reports, 14, 59-67. doi:10.1016/j.ymgmr.2017.11.005

Sawamoto, K., Chen, H.-H., Almeciga-Diaz, C. J., Mason, R. W., & Tomatsu, S. (2018). Gene therapy for Mucopolysaccharidoses. Molecular Genetics and Metabolism, 123(2), 59-68. doi:10.1016/j.ymgme.2017.12.434

Kubaski, F., Mason, R. W., Nakatomi, A., Shintaku, H., Xie, L., van Vlies, N. N., & Tomatsu, S. (2017). Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry. Journal of Inherited Metabolic Disease, 40(1), 151-158. doi:10.1007/s10545-016-9981-6

Khan, S., Almeciga-Diaz, C. J., Sawamoto, K., Mackenzie, W. G., Theroux, M. C., Pizarro, C., & Tomatsu, S. (2017). Mucopolysaccharidosis IVA and glycosaminoglycans. Molecular Genetics and Metabolism, 120(1-2), 78-95. doi:10.1016/j.ymgme.2016.11.007

Kubaski, F., Osago, H., Mason, R. W., Yamaguchi, S., Kobayashi, H., Tsuchiya, M., & Tomatsu, S. (2017). Glycosaminoglycans detection methods: Applications of mass spectrometry. Molecular Genetics and Metabolism, 120(1-2), 67-77. doi:10.1016/j.ymgme.2016.09.005

Kubaski, F., Suzuki, Y., Orii, K., Giugliani, R., Church, H. J., Mason, R. W., & Tomatsu, S. (2017). Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. Molecular Genetics and Metabolism, 120(3), 247-254. doi:10.1016/j.ymgme.2016.12.010

Stapleton, M., Kubaski, F., Mason, R. W., Yabe, H., Suzuki, Y., Orii, K. E., & Tomatsu, S. (2017). Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). Expert Opinion on Orphan Drugs, 5(4), 295-307. doi:10.1080/21678707.2017.1296761

Kubaski, F., Brusius-Facchin, A. C., Mason, R. W., Patel, P., Burin, M. G., Michelin-Tirelli, K., & Tomatsu, S. (2017). Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. Prenatal Diagnosis, 37(5), 435-439. doi:10.1002/pd.5028

Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., & Tomatsu, S. (2017). Epidemiology of mucopolysaccharidoses. Molecular Genetics and Metabolism, 121(3), 227-240. doi:10.1016/j.ymgme.2017.05.016

Stapleton, M., Sawamoto, K., Almeciga-Diaz, C. J., Mackenzie, W. G., Mason, R. W., Orii, T., & Tomatsu, S. (2017). Development of bone targeting drugs. International Journal of Molecular Sciences, 18(7). doi:10.3390/ijms18071345

Kubaski, F., Yabe, H., Suzuki, Y., Seto, T., Hamazaki, T., Mason, R. W., & Tomatsu, S. (2017). Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. Biology of Blood and Marrow Transplantation, 23(10), 1795-1803. doi:10.1016/j.bbmt.2017.06.020

Azario, I., Pievani, A., Del Priore, F., Antolini, L., Santi, L., Corsi, A., & Serafini, M. (2017). Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I. Scientific Reports, 7(1). doi:10.1038/s41598-017-09958-9

Tomatsu, S., Averill, L. W., Sawamoto, K., Mackenzie, W. G., Bober, M. B., Pizarro, C., & Theroux, M. (2016). Obstructive airway in Morquio A syndrome, the past, the present and the future. Molecular Genetics and Metabolism, 117(2), 150-156. doi:10.1016/j.ymgme.2015.09.007

Yabe, H., Tanaka, A., Chinen, Y., Kato, S., Sawamoto, K., Yasuda, E., & Tomatsu, S. (2016). Hematopoietic stem cell transplantation for Morquio A syndrome. Molecular Genetics and Metabolism, 117(2), 84-94. doi:10.1016/j.ymgme.2015.09.011

Kecskemethy, H. H., Kubaski, F., Harcke, H. T., & Tomatsu, S. (2016). Bone mineral density in MPS IV A (Morquio syndrome type A). Molecular Genetics and Metabolism, 117(2), 144-149. doi:10.1016/j.ymgme.2015.11.013

Tomatsu, S., Azario, I., Sawamoto, K., Pievani, A. S., Biondi, A., & Serafini, M. (2016). Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better? Journal of Inherited Metabolic Disease, 39(2), 189-202. doi:10.1007/s10545-015-9900-2

Simonaro, C. M., Tomatsu, S., Sikora, T., Kubaski, F., Frohbergh, M., Guevara, J. M., & Haskins, M. E. (2016). Pentosan polysulfate: Oral versus subcutaneous injection in mucopolysaccharidosis type I dogs. PLoS ONE, 11(4). doi:10.1371/journal.pone.0153136

Yasuda, E., Suzuki, Y., Shimada, T., Sawamoto, K., Mackenzie, W. G., Theroux, M. C., & Tomatsu, S. (2016). Activity of daily living for Morquio A syndrome. Molecular Genetics and Metabolism, 118(2), 111-122. doi:10.1016/j.ymgme.2016.04.005

Kubaski, F., Kecskemethy, H. H., Harcke, H. T., & Tomatsu, S. (2016). Bone mineral density in mucopolysaccharidosis IVB. Molecular Genetics and Metabolism Reports, 8, 80-84. doi:10.1016/j.ymgmr.2016.08.001

Sawamoto, K., Suzuki, Y., Mackenzie, W. G., Theroux, M. C., Pizarro, C., Yabe, H., & Tomatsu, S. (2016). Current therapies for Morquio A syndrome and their clinical outcomes. Expert Opinion on Orphan Drugs, 4(9), 941-951. doi:10.1080/21678707.2016.1214572

Auray-Blais, C., Lavoie, P., Tomatsu, S., Valayannopoulos, V., Mitchell, J. J., Raiman, J., & Clarke, J. T. R. (2016). UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses. Analytica Chimica Acta, 936, 139-148. doi:10.1016/j.aca.2016.06.054

Pizarro, C., Davies, R. R., Theroux, M., Spurrier, E. A., Averill, L. W., & Tomatsu, S. (2016). Surgical Reconstruction for Severe Tracheal Obstruction in Morquio A Syndrome. Annals of Thoracic Surgery, 102(4), e329-e331. doi:10.1016/j.athoracsur.2016.02.113

Tomatsu, S., Sawamoto, K., Shimada, T., Bober, M. B., Kubaski, F., Yasuda, E., & Orii, T. (2015). Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): Effect and limitations. Expert Opinion on Orphan Drugs, 3(11), 1279-1290. doi:10.1517/21678707.2015.1086640

Kubaski, F., Tomatsu, S., Patel, P., Shimada, T., Xie, L., Yasuda, E., & Shaffer, T. H. (2015). Non-invasive pulmonary function test on Morquio patients. Molecular Genetics and Metabolism, 115(4), 186-192. doi:10.1016/j.ymgme.2015.06.007

Tomatsu, S., Shimada, T., Patel, P., Mason, R. W., Mikami, T., Kitagawa, H., & Orii, T. (2015). Chondroitin and keratan sulfate. In Sulfated Polysaccharides (bll 17-72). Opgehaal van https://www.scopus.com/inward/record.uri?eid=2-s2.0-84957950807&partnerID=40&md5=6109dd98cc1bf9796776fdf9ee30461c

Tomatsu, S., Sawamoto, K., Almeciga-Diaz, C. J., Shimada, T., Bober, M. B., Chinen, Y., & Orii, T. (2015). Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with morquio a syndrome. Drug Design, Development and Therapy, 9, 1937-1953. doi:10.2147/DDDT.S68562

Pievani, A., Azario, I., Antolini, L., Shimada, T., Patel, P., Remoli, C., & Serafini, M. (2015). Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I. Blood, 125(10), 1662-1671. doi:10.1182/blood-2014-06-581207

Tomatsu, S., Almeciga-Diaz, C. J., Montano, A. M., Yabe, H., Tanaka, A., Dung, V. C., & Orii, T. (2015). Therapies for the bone in mucopolysaccharidoses. Molecular Genetics and Metabolism, 114(2), 94-109. doi:10.1016/j.ymgme.2014.12.001

Tomatsu, S., Montano, A. M., Oikawa, H., Dung, V. C., Hashimoto, A., Oguma, T., & Sly, W. S. (2015). Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions? Molecular Genetics and Metabolism, 114(2), 195-202. doi:10.1016/j.ymgme.2014.05.013

Tanjuakio, J., Suzuki, Y., Patel, P., Yasuda, E., Kubaski, F., Tanaka, A., & Tomatsu, S. (2015). Activities of daily living in patients with Hunter syndrome: Impact of enzyme replacement therapy and hematopoietic stem cell transplantation. Molecular Genetics and Metabolism, 114(2), 161-169. doi:10.1016/j.ymgme.2014.11.002

Shimada, T., Tomatsu, S., Mason, R. W., Yasuda, E., Mackenzie, W. G., Hossain, J., & Orii, T. (2015). Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB. In JIMD Reports (Vol 21, bll 1-13). doi:10.1007/8904_2014_330

Yasuda, E., Mackenzie, W. G., Ruhnke, K. D., Shimada, T., Mason, R. W., Zustin, J., & Tomatsu, S. (2015). Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: Clinical, biochemical, and pathological improvements. Molecular Genetics and Metabolism Reports, 2, 65-76. doi:10.1016/j.ymgmr.2014.12.006

Drummond, J. C., Krane, E. J., Tomatsu, S., Theroux, M. C., & Lee, R. R. (2015). Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis. Canadian Journal of Anesthesia, 62(1), 45-49. doi:10.1007/s12630-014-0247-1