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

URL الوصول: https://escholarship.org/uc/item/99q0g6tp

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

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

URL الوصول: https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82

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

Relation: http://www.dovepress.com/impact-of-enzyme-replacement-therapy-andnbsphematopoietic-stem-cell-tr-peer-reviewed-article-DDDT; https://doaj.org/toc/1177-8881; https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82

الاتاحة: https://doaj.org/article/a7d3ef9c7be441aca613841e40b90f82

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

الاتاحة: http://dx.doi.org/10.1093/ije/dyv096.499
http://academic.oup.com/ije/article-pdf/44/suppl_1/i263/7923976/dyv096.499.pdf

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

Time: 20th Century, 21st Century

Relation: 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/20.500.11768/106192

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

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

الاتاحة: http://dx.doi.org/10.1093/hmg/ddm353
http://academic.oup.com/hmg/article-pdf/17/6/815/1638632/ddm353.pdf

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

Relation: http://jmg.bmj.com/cgi/content/short/41/7/e98; http://dx.doi.org/10.1136/jmg.2003.018010

الاتاحة: http://jmg.bmj.com/cgi/content/short/41/7/e98
https://doi.org/10.1136/jmg.2003.018010

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

الاتاحة: http://dx.doi.org/10.1007/s100380200090
http://www.nature.com/articles/jhg200297.pdf
http://www.nature.com/articles/jhg200297

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

Relation: http://fn.bmj.com/cgi/content/short/82/1/F77b; http://dx.doi.org/10.1136/fn.82.1.F77b

الاتاحة: http://fn.bmj.com/cgi/content/short/82/1/F77b
https://doi.org/10.1136/fn.82.1.F77b

المؤلفون: Liu, Z., Sakurai, T., Orii, T., Iga, T., Kaihara, S.

المصدر: Medical Informatics and the Internet in Medicine ; volume 25, issue 2, page 123-132 ; ISSN 1463-9238

الاتاحة: http://dx.doi.org/10.1080/14639230050058301
http://www.tandfonline.com/doi/pdf/10.1080/14639230050058301

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

الاتاحة: http://dx.doi.org/10.1136/jmg.36.10.779
https://syndication.highwire.org/content/doi/10.1136/jmg.36.10.779

المؤلفون: Burlina Ab, Gibson Km, Ruitenbeek W, Bonafe L, Bennett Mj. “profound Neurological, Hashimoto T, Orii T, Kondo N. “characterization Of Ns, Ap Missense Mutations

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.6251; http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.537.6251
http://www.idph.state.ia.us/genetics/common/pdf/bkt_ref.pdf

المؤلفون: Yamada, Y, Kato, K, Sukegawa, K, Tomatsu, S, Fukuda, S, Emura, S, Kojima, S, Matsuyama, T, Sly, WS, Kondo, N, Orii, T

المصدر: Bone Marrow Transplantation ; volume 21, issue 6, page 629-634 ; ISSN 0268-3369 1476-5365

الاتاحة: http://dx.doi.org/10.1038/sj.bmt.1701141
https://www.nature.com/articles/1701141.pdf
https://www.nature.com/articles/1701141

المؤلفون: Tsukamoto, S., Ohkohchi, N., Fukumori, T., Orii, T., Asakura, T., Takayama, J., Shibuya, H., Kato, H., Satomi, S.

المصدر: Transplantation ; volume 66, issue 8, page S11 ; ISSN 0041-1337

الاتاحة: http://dx.doi.org/10.1097/00007890-199810270-00071
http://journals.lww.com/00007890-199810270-00071

المؤلفون: Harbtn, Donald N, Amleh, A, Bernes, A, Bodzian, F, Boyer, K, Conaway, J, Dias, H, Dommarco, R, Duverney-Pret, P, Earnest, S, Ely, D, Fornarelli, L, Förster, R, Gentry, G, Görlitz, G, Gomez, F, Guess, P, Hähnchen, K, Hamilton, D, Halley, M, Hathaway, M, Hickes, H, Isono, K, Kulinna, H, Lucas, P, Manger, P, Manso, L, Moffett, S, Müller, T, Orii, T, Paul, R, Reubke, K, Rivera, L, Rubbiani, M, Schetter, J, Schulz, D, Shaocong, L, Smead, F, Tam, K, Tengler, H, Torma, L, del Valle, M, Verweij, A, Walls, G, Weiping, G

المصدر: Journal of AOAC INTERNATIONAL ; volume 80, issue 4, page 703-708 ; ISSN 1060-3271 1944-7922

الاتاحة: http://dx.doi.org/10.1093/jaoac/80.4.703
http://academic.oup.com/jaoac/article-pdf/80/4/703/32459697/jaoac0703.pdf

المؤلفون: Song, X.Q., Fukao, T., Suzuki, Y., Imamura, A., Uchiyama, A., Shimozawa, N., Kondo, N., Orii, T.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/4/6/1093; http://dx.doi.org/10.1093/hmg/4.6.1093

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/4/6/1093
https://doi.org/10.1093/hmg/4.6.1093

المؤلفون: Kondo, N, Inoue, R, Kasahara, K, Kaneko, H, Kameyama, T, Orii, T

المصدر: Clinical and Experimental Immunology ; volume 99, issue 1, page 21-28 ; ISSN 1365-2249 0009-9104

مصطلحات موضوعية: Immunology, Immunology and Allergy

الاتاحة: http://dx.doi.org/10.1111/j.1365-2249.1995.tb03467.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2249.1995.tb03467.x
https://academic.oup.com/cei/article-pdf/99/1/21/42201948/j.1365-2249.1995.tb03467.x.pdf

المؤلفون: Tomatsu, S., Fukuda, S., Iwata, H., Ogawa, T., Sukegawa, K., Orii, T.

مصطلحات موضوعية: DNA MARKERS AND POLYMORPHISMS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1208; http://dx.doi.org/10.1093/hmg/3.7.1208

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1208
https://doi.org/10.1093/hmg/3.7.1208

المؤلفون: Tomatsu, S., Fukuda, S., Iwata, H., Ogawa, T., Sukegawa, K., Orii, T.

مصطلحات موضوعية: DNA MARKERS AND POLYMORPHISMS

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1208-a; http://dx.doi.org/10.1093/hmg/3.7.1208-a

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/3/7/1208-a
https://doi.org/10.1093/hmg/3.7.1208-a

المؤلفون: Wu, B.M., Tomatsu, S., Fukuda, S., Sukegawa, K., Orii, T., Sly, W.S.

المصدر: Journal of Biological Chemistry ; volume 269, issue 38, page 23681-23688 ; ISSN 0021-9258

الاتاحة: http://dx.doi.org/10.1016/s0021-9258(17)31569-7
https://api.elsevier.com/content/article/PII:S0021925817315697?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0021925817315697?httpAccept=text/plain