المؤلفون: Hendriksz, CJ, Harmatz, P, Beck, M, Jones, S, Wood, T, Lachman, R, Gravance, CG, Orii, T, Tomatsu, S

المصدر: Molecular Genetics and Metabolism. 110(1-2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Mucopolysaccharidoses (MPS), Genetic Testing, Genetics, 2.1 Biological and endogenous factors, Aetiology, Chondroitinsulfatases, Fibroblasts, Glycosaminoglycans, Humans, Mucopolysaccharidosis IV, Mutation, Phenotype, Mucopolysaccharidosis IVA, MPS IVA, Morquio A, GALNS, Laboratory diagnosis, CDC, CPAP, Centers for Disease Control and Prevention, Continuous positive airway pressure, DBS, Dried blood spots, N-acetylgalactosamine-6-sulfate sulfatase, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/99q0g6tpTest

المؤلفون: Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T

المصدر: Drug Design, Development and Therapy, Vol 2015, Iss default, Pp 1937-1953 (2015)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/impact-of-enzyme-replacement-therapy-andnbsphematopoietic-stem-cell-tr-peer-reviewed-article-DDDTTest; https://doaj.org/toc/1177-8881Test

الوصول الحر: https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82Test

المؤلفون: Tomatsu S, Sawamoto K, Alméciga-Díaz CJ, Shimada T, Bober MB, Chinen Y, Yabe H, Montaño AM, Giugliani R, Kubaski F, Yasuda E, Rodríguez-López A, Espejo-Mojica AJ, Sánchez OF, Mason RW, Barrera LA, Mackenzie WG, Orii T

المصدر: Drug Design, Development and Therapy, Vol 2015, Iss default, Pp 1937-1953 (2015)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

العلاقة: http://www.dovepress.com/impact-of-enzyme-replacement-therapy-andnbsphematopoietic-stem-cell-tr-peer-reviewed-article-DDDTTest; https://doaj.org/toc/1177-8881Test; https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82Test

الإتاحة: https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82Test

المؤلفون: Sugimori, H., Endo, T., Odajima, T., Tadano, T., Takayasu, R., Tanba, T., Kasai, M., Kawame, T., Yamamoto, M., Orii, T.

المصدر: International Journal of Epidemiology ; volume 44, issue suppl_1, page i263-i264 ; ISSN 1464-3685 0300-5771

مصطلحات موضوعية: General Medicine, Epidemiology

الإتاحة: https://doi.org/10.1093/ije/dyv096.499Test
http://academic.oup.com/ije/article-pdf/44/suppl_1/i263/7923976/dyv096.499.pdfTest

المؤلفون: Taylor M., Khan S., Stapleton M., Wang J., Chen J., Wynn R., Yabe H., Chinen Y., Boelens J. J., Mason R. W., Kubaski F., Horovitz D. D. G., Barth A. L., Serafini M., Bernardo M. E., Kobayashi H., Orii K. E., Suzuki Y., Orii T., Tomatsu S.

المساهمون: Taylor, M., Khan, S., Stapleton, M., Wang, J., Chen, J., Wynn, R., Yabe, H., Chinen, Y., Boelens, J. J., Mason, R. W., Kubaski, F., Horovitz, D. D. G., Barth, A. L., Serafini, M., Bernardo, M. E., Kobayashi, H., Orii, K. E., Suzuki, Y., Orii, T., Tomatsu, S.

مصطلحات موضوعية: Allogenic hematopoietic stem cell transplantation, Enzyme replacement therapy, Limitations, Mucopolysaccharidoses, Outcomes, Allografts, Hematopoietic Stem Cell Transplantation, History, Humans

الوقت: 20th Century, 21st Century

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000457351700361; volume:25; issue:7; firstpage:e226; lastpage:e246; journal:BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION; http://hdl.handle.net/20.500.11768/106192Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063505811

الإتاحة: https://doi.org/20.500.11768/106192Test
https://doi.org/10.1016/j.bbmt.2019.02.012Test
https://hdl.handle.net/20.500.11768/106192Test

المؤلفون: Tomatsu, S., Montano, A. M., Ohashi, A., Gutierrez, M. A., Oikawa, H., Oguma, T., Dung, V. C., Nishioka, T., Orii, T., Sly, W. S.

المصدر: Human Molecular Genetics ; volume 17, issue 6, page 815-824 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddm353Test
http://academic.oup.com/hmg/article-pdf/17/6/815/1638632/ddm353.pdfTest

المؤلفون: Tomatsu, S, Nishioka, T, Montaño, A M, Gutierrez, M A, Pena, O S, Orii, K O, Sly, W S, Yamaguchi, S, Orii, T, Paschke, E, Kircher, S G, Noguchi, A

مصطلحات موضوعية: Online mutation reports

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/41/7/e98Test; http://dx.doi.org/10.1136/jmg.2003.018010Test

الإتاحة: https://doi.org/10.1136/jmg.2003.018010Test
http://jmg.bmj.com/cgi/content/short/41/7/e98Test

المؤلفون: Takemoto, Y., Suzuki, Y., Tamakoshi, A., Onodera, O., Tsuji, S., Hashimoto, T., Shimozawa, N., Orii, T., Kondo, N.

المصدر: Journal of Human Genetics ; volume 47, issue 11, page 0590-0593 ; ISSN 1434-5161 1435-232X

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s100380200090Test
http://www.nature.com/articles/jhg200297.pdfTest
http://www.nature.com/articles/jhg200297Test

المؤلفون: IWATA, SHOKO, SUKEGAWA, KAZUKO, KOKURYU, MIE, TOMATSU, SHUNJI, KONDO, NAOMI, IWASA, S, ORII, T

مصطلحات موضوعية: Letters to the editor

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/82/1/F77bTest; http://dx.doi.org/10.1136/fn.82.1.F77bTest

الإتاحة: https://doi.org/10.1136/fn.82.1.F77bTest
http://fn.bmj.com/cgi/content/short/82/1/F77bTest

المؤلفون: Shimozawa, N., Imamura, A., Zhang, Z., Suzuki, Y., Orii, T., Tsukamoto, T., Osumi, T., Fujiki, Y., Wanders, R. J. A., Besley, G., Kondo, N.

المصدر: Journal of Medical Genetics ; volume 36, issue 10, page 779-781 ; ISSN 0022-2593 1468-6244

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1136/jmg.36.10.779Test