المؤلفون: Mehta, A, Kuter, DJ, Salek, SS, Belmatoug, N, Bembi, B, Bright, J, vom Dahl, S, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Lukina, EA, Machaczka, M, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri, B, Pastores, G, Perez-Lopez, J, Ramaswami, U, Schwartz, IV, Szer, J, Weinreb, NJ, Zimran, A

المصدر: Internal medicine journal. 49(5):578-591

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140938544

المؤلفون: Mehta, A, Kuter, DJ, Salek, SS, Belmatoug, N, Bembi, B, Bright, J, Dahl, SV, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Lukina, EA, Machaczka, M, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri, B, Pastores, G, Perez-Lopez, J, Ramaswami, U, Schwartz, IV, Szer, J, Weinreb, NJ, Zimran, A

المصدر: Internal medicine journal. 49(8):1059-1059

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141593654

المؤلفون: Somanadhan, S., Bristow, H., Crushell, E., Pastores, G., Nicholson, E., Kroll, T., Larkin, P.J., Brinkley, A.

المصدر: Therapeutic advances in rare disease, vol. 2, pp. 26330040211020764

مصطلحات موضوعية: children, mucopolysaccharidoses, multiple-method, paediatric inventory for parents, parent, qualitative research, quality of life, resilience scale, young adults

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/37181103; info:eu-repo/semantics/altIdentifier/eissn/2633-0040; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_22C73E70C53F2; https://serval.unil.ch/notice/serval:BIB_22C73E70C53F; https://serval.unil.ch/resource/serval:BIB_22C73E70C53F.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_22C73E70C53F
https://doi.org/10.1177/26330040211020764
https://serval.unil.ch/resource/serval:BIB_22C73E70C53F.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_22C73E70C53F2

المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.

المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext

الاتاحة: https://hdl.handle.net/11585/928082
https://doi.org/10.1016/j.jpeds.2021.08.070
https://www.jpeds.com/article/S0022-3476(21)00855-6/fulltext

المؤلفون: Giunti, P, Morris, S, Relja, M, Pastores, G, Quoidbach, V

المصدر: Croatian Medical Journal , 60 (2) pp. 156-157. (2019)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10074623/3/Giunti_cmj_60_2_quoidbach_giunti_31044588.pdf; https://discovery.ucl.ac.uk/id/eprint/10074623/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10074623/3/Giunti_cmj_60_2_quoidbach_giunti_31044588.pdf
https://discovery.ucl.ac.uk/id/eprint/10074623/

المؤلفون: Damiano, A. M., Pastores, G. M., Ware, John E. Jr.

المساهمون: Department of Quantitative Health Sciences

المصدر: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation ; 7 ; 5 ; 373-86

مصطلحات موضوعية: Adolescent, Adult, Chi-Square Distribution, Cross-Sectional Studies, Female, Gaucher Disease, Glucosylceramidase, Humans, Interviews as Topic, Logistic Models, Male, Middle Aged, Quality of Life, Retrospective Studies, Risk Factors, Severity of Illness Index, Sex Factors, Treatment Outcome, Biostatistics, Epidemiology, Health Services Research

Relation: Link to Article in PubMed; http://dx.doi.org/10.1023/A:1008814105603; Qual Life Res. 1998 Jul;7(5):373-86. Link to article on publisher's site; 0962-9343 (Linking); 9691718; http://hdl.handle.net/20.500.14038/47405; https://escholarship.umassmed.edu/qhs_pp/546; 1363381; qhs_pp/546

الاتاحة: https://doi.org/10.1023/A:1008814105603
https://hdl.handle.net/20.500.14038/47405
https://escholarship.umassmed.edu/qhs_pp/546

المؤلفون: Gilbert, Edmund, O’Reilly, Seamus, Merrigan, Michael, McGettingan, Darren, Vitart, Veronique, Joshi, Peter K, Clark, David W, Campbell, Harry, Hayward, Caroline, Ring, Susan M, Golding, Jean, Goodfellow, Stephanie, Navarro, Pau, Kerr, Shona M, Amador, Carmen, Campbell, Archie, Haley, Chris S, Porteous, David J, Cavalleri, Gianpiero L, Wilson, James F, Byrne, RP, van Rheenen, W, Veldink, JH, McLaughlin, RL, Fitzgerald, Joan, Fahey, Laura, Whitton, Laura, Donohoe, Gary, Morris, Derek W, Smyth, LJ, Wooster, C, Kilner, J, Kee, F, Young, I, McGuinness, B, Maxwell, AP, McKay, GJ, McKnight, AJ, Maloney, DM, Chadderton, N, Millington-Ward, S, Farrar, GJ, Lambert, DM, Nguengang-Wakap, S, Olry, A, Rath, A, Murphy, D, Lynch, SA, Treacy, EP, Gunne, E, McGarvey, C, Hamilton, K, Savage, S, Rasheed, E, Rashid, A, Keogh, E, MacNamara, B, Collison, C, Brazil, N, Whatley, S, Crowley, VEF, Murphy, DN, Turner, J, Doyle, Samantha, Abidin, Zaza, Senanayake, Suranga, James, Stephanie, Yap, Mei, Hart, Caroline, Crushell, Ellen, Smyth, Shane, Green, Andrew, Treacy, Eileen, Lynch, Tim, Pastores, Gregory, Laffan, Aoife, O’Byrne, James, Palfi, A, Yesmambetov, A, Ormond, CM, Ryan, NM, Heron, EA, Gill, M, Corvin, AP, Kelly, CM, Doherty, MA, Hengeveld, JC, Campbell, C, Leu, C, Delanty, N, Lal, D, Cavalleri, GL, Angel, CZ, McNally, CJ, McKenna, DJ, Breslin, EM, Cassidy, LM, Martiniano, R, Mattiangeli, V, Silva, AM, Bradley, DG, Kearney, H, Balagura, G, Lewis-Smith, D, Ganesan, S, Gan, J, Galer, PD, Wang, Y, Tan, NCK, Lench, NJ, Steward, CA, Krause, R, Robinson, P, Helbig, I, Finnegan, LK, Kenna, P, Carty, M, Bowie, AG, Whelan, L, Dockery, A, Kenna, PF, Keegan, D, Silvestri, G, Khan, M, Cornelis, SS, Dhaenens, CM, Humphries, P, Cremers, FPM, Roosing, S, Broin, Pilib Ó, Morris, Derek, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Kerin, Michael J, Flaus, Andrew, Irwin, RE, Thursby, SJ, Ondičová, M, Pentieva, K, McNulty, H, Richmond, C, Caffrey, A, Lees-Murdock, DJ, McLaughlin, M, Cassidy, T, Suderman, M, Relton, CL, Walsh, CP, Carrigan, M, Maloney, D, Hanlon, K, Bookey, N, Drago, P, Parle-McDermott, A, Flynn, PM, Toulouse, A, Bermingham, N, Jansen, M, Hand, CK, Skelly, RD, Cole, J, Berkeley, M, Dinneen, Thomas, O’Cónail, A, Kirov, George, Lopez, Lorna M, Gallagher, Louise, Ning, Z, Williams, JM, Kumari, R, Baranov, PV, Moore, T, Bhandari, Sushil, Hillman, Sara, Dolma, Padma, Mukerji, Mitali, Prasher, Bhavana, Montgomery, Hugh E., Gunne, EA, Ward, A, Treacy, E, Lambert, D, Benson, KA, Murray, S, Senum, SR, Kennedy, C, Yachnin, K, Gangadharan, N, Harris, PC, Conlon, P, Zhu, J, Wynne, N, McKenna, C, Humphreys, M, McNerlan, S, Dabir, T, Rea, G, Morrison, PJ, Donnelly, DE, Jeffers, L, Sasaki, E, Kelly, H, Hayes, B, Ryan, K, Carolan, E, Betts, D, Green, A, Sheerin, A, Grabowsky, L, James, S, Senanayake, S, Abidin, Z, O’Byrne, J, Pastores, G, McConnell, V, Bradley, L, Reid, J, Fitzsimons, D, Dempster, M, Pentony, Michaela, Bradley, Lisa, Connor, Pamela O’, Kirk, Claire W, Donnelly, Deirdre E, Hardy, Rachel, Shepherd, Charles W, Morrison, Patrick J, Doyle, S, McVeigh, T, O’Byrne, JJ, Senanayake, SL, Sadok, S, Pastores, GM, Forde, R, Rakovac, A, Abdelfadil, S, Mac Namara, B, O’Connor, P, Heggarty, S, Hart, P, Morgan, NE, Dorris, E, Cummins, E, Adeeb, F, Taylor, C, Savic, S, Killeen, O, Fraser, A, Wilson, AG, Murphy, Jane, Kirk, Claire, Prendiville, Terence, Ward, Deirdre, Galvin, Joseph, Lynch, Sally Ann, Carroll, C, Kirk, C, Murphy, J, Duff, M, Mooney, E, Clark, T, King, C, Fallah, L, Hinde, J

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Poster Presentations, Abstracts, Oral Presentations

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::3eecc81c898a75d048206c6167b78e50
http://europepmc.org/articles/PMC7027180

المؤلفون: Grabowski, G, Pastores, G, Mardach, R, Eng, C, Smith, L, Fernhoff, P, Charrow, J, Heisel-Kurth, M, Longo, N, Rhead, W, Harmatz, P, Mehta, A, Giraldo, P, Tylki-Szymanska, A, Zimran, A, Crombez, E

المصدر: Pediatric Research ; volume 68, page 246-247 ; ISSN 0031-3998 1530-0447

الاتاحة: http://dx.doi.org/10.1203/00006450-201011001-00482

المؤلفون: James, S, Sheerin, A, Grabowsky, L, Senanayake, S, Abidin, Z, O’Byrne, J, Treacy, E, Pastores, G

المصدر: General Poster Abstracts 1 ; page A17-A18

الاتاحة: http://dx.doi.org/10.1136/heartjnl-2019-ics.21
https://syndication.highwire.org/content/doi/10.1136/heartjnl-2019-ICS.21

المؤلفون: Pastores, G. M., Boyd, E., Crandall, K., Whelan, A., Piersall, L., Barnett, N.

المصدر: Nephrology Dialysis Transplantation ; volume 22, issue 7, page 1920-1925 ; ISSN 0931-0509 1460-2385

الاتاحة: https://doi.org/10.1093/ndt/gfm096
http://academic.oup.com/ndt/article-pdf/22/7/1920/7627004/gfm096.pdf

المؤلفون: Hynds, P, Coghlan, D, Purcell, C, Green, A, Ward, A, Lynch, SA, Hough, O, Duff, M, Cody, N, Carroll, C, Bradley, L, Green, Andrew, Lynch, Sally-Ann, Crushell, E, Byrne, N, Gorman, K, King, M, Irvine, A, Monavari, A, Knerr, I, Cotter, M, McConnell, V, Browne, F, Lambert, D, Turner, J, Casey, J, Doyle, S, Nesbitt, IM, Fitzgibbon, M, Pastores, G, Kirk, R, Treacy, EP, Benson, KA, Kennedy, C, Yachnin, K, Cavalleri, G L, Conlon, P, McVeigh, Úna M, McVeigh, Terri P, Miller, Nicola, Morris, Derek W, Kerin, Michael J, Irwin, R., Caffrey, A., McLaughlin, M., McNulty, H., Cassidy, T., Pentieva, K., Walsh, C., Minguzzi, S, MacCooey, A, Brosnan, J, Brosnan, M, Henry, M, Meleady, P, Parle-McDermott, A, Gilbert, EH, O’Reilly, S, Merrigan, M, McGettigan, D, Molloy, AM, Brody, LC, Bodmer, W, Hutnik, K, Ennis, S, Lawson, DJ, Wilson, JF, Cavalleri, GL, Flynn, M, Whitton, L, Gill, M, Corvin, A, Donohoe, G, Morrison, C, Morris, D, Stapleton, CP., Birdwell, KA., Mark, PB., Sanders, ML., Phelan, PJ., Maxwell, AP., McKnight, AJ., Kennedy, C., Jardine, A., Traynor, J.P, Chapman, F., Keating, B., Conlon, PJ., Cavalleri, GL., Gunne, EA, Lambert, DM, Martin, R, Donnelly, DE, Callaghan, MB, Morrison, PJ, McConville, DO, Archbold, GP, Lewis, A, Morrison, P J, Das, S., Kelly, D., Moran, B., Harold, E., Han, K., Mulligan, N., Barrett, C., Buckley, P.G., Mc Mahon, P., McCaffrey, J, Van Essen, H. F., Connor, K., Ylstra, B., Lambrechts, D., Gallagher, W.M., O’Connor, D.P., Kelly, C.M., O’Neill, T, Power, C, de Franco, E, Ellard, S, Antao, B, O’Connell, SM, Dabir, T, Heggarty, S, Dockery, A, Carrigan, M, Wynne, N, Keegan, D, Stevenson, K, Silvestri, G, McCourt, J, Humphries, P, Kenna, PF., Farrar, GJ, Agbahovbe, R, Cohen, ASA, Gibson, WT, Cole, AM, Bohlender, R., Hu, H, Heinrich, E, Ramirez, C, Yu, Y, Powell, F, Gaio, E, Villafuerte, F., Taylor, C, Huff, C, Simonson, T., Cavalleri, G., Scullion, C, Irwin, R, Thakur, A, Walsh, C, Shortall, C, Palfi, A, Chadderton, N, Kenna, PF, Boomkamp, S, Shen, S, Hardcastle, AJ, Maloney, DM, Millington-Ward, S, Mackin, S-J, Irwin, R E., O’Neill, KM., Pollin, G, Apostolova, G, Dechant, G, Mackin, SJ, O’Neill, K, Walsh, CP, Sohedein, MNA, Morris, DW, Chaudhry, M, Segurado, R, Shields, D, Wilson, AG, Watkin, R.L., Piskareva, O., Madden, S., Stallings, R., Kerrigan, S.W., O’Neill, K M., Thursby, SJ, Bertens, C, Masala, L, Loughery, J, McArt, D, Amenyah, S. D., McMahon, A., Deane, J., Ward, M., Strain, J.J., Horigan, G., Purvis, J., Lees-Murdock, D., Lynch, SM., Ward, M, McNulty, H, Horigan, G, Purvis, J, Tackett, M, McKenna, DJ., Angel, Z, Walsh, CP.

المصدر: The Ulster Medical Journal

مصطلحات موضوعية: Abstracts, Poster Presentations, Oral Presentations, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmc_________::fdf6c40aeeb2ef81cbaee6c14650e042
http://europepmc.org/articles/PMC5849961

المؤلفون: Pérez-Calvo J, Giraldo P, Pastores G, Fernández-Galán M, Martín-Nuñez G, Pocoví M

المصدر: Journal of Postgraduate Medicine, Vol 49, Iss 2, Pp 127-31 (2003)

مصطلحات موضوعية: Medicine

Relation: http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2003;volume=49;issue=2;spage=127;epage=31;aulast=Pérez-Calvo; https://doaj.org/toc/0022-3859; https://doaj.org/toc/0972-2823; https://doaj.org/article/eb7e21a046af4cd7996f3af62f10c8b9

الاتاحة: https://doaj.org/article/eb7e21a046af4cd7996f3af62f10c8b9

المؤلفون: Scott, C.R., Pastores, G., Andersson, H., Charrow, J., Kaplan, P., Kolodny, E., Mistry, P., Rosenbloom, B., Wappner, R., Weinreb, N.

المصدر: Genetics in Medicine ; volume 2, issue 1, page 65 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1097/00125817-200001000-00059
https://api.elsevier.com/content/article/PII:S1098360021003646?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021003646?httpAccept=text/plain

المؤلفون: Olszewska, Diana Angelika, Fallon, E. M., Pastores, G. M., Murphy, K., Blanco, A., Lynch, T., Murphy, S. M.

المصدر: The Cerebellum ; volume 18, issue 3, page 654-658 ; ISSN 1473-4222 1473-4230

الاتاحة: http://dx.doi.org/10.1007/s12311-018-0998-2
http://link.springer.com/content/pdf/10.1007/s12311-018-0998-2.pdf
http://link.springer.com/article/10.1007/s12311-018-0998-2/fulltext.html

المؤلفون: Pastores, G., Lonardo, C., Variano, B., Anderson, M. L.

المصدر: Journal of Liquid Chromatography ; volume 18, issue 15, page 3049-3059 ; ISSN 0148-3919

الاتاحة: http://dx.doi.org/10.1080/10826079508010432
http://www.tandfonline.com/doi/pdf/10.1080/10826079508010432

المؤلفون: Michels, V V, Pastores, G M, Moll, P P, Driscoll, D J, Miller, F A, Burnett, J C, Rodeheffer, R J, Tajik, J A, Beggs, A H, Kunkel, L M

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/30/11/955; http://dx.doi.org/10.1136/jmg.30.11.955

الاتاحة: http://jmg.bmj.com/cgi/content/short/30/11/955
https://doi.org/10.1136/jmg.30.11.955

المؤلفون: Pastores, G M, Michels, V V, Schaid, D J, Driscoll, D J, Feldt, R H, Thibodeau, S N

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/29/1/56; http://dx.doi.org/10.1136/jmg.29.1.56

الاتاحة: http://jmg.bmj.com/cgi/content/short/29/1/56
https://doi.org/10.1136/jmg.29.1.56

المؤلفون: Jian, J., Zhao, S., Tian, Q.-Y., Liu, H., Zhao, Y., Chen, W.-C., Grunig, G., Torres, P.A., Wang, B.C., Zeng, B., Pastores, G., Tang, W., Sun, Y., Grabowski, G.A., Kong, M.X., Wang, G., Chen, Y., Liang, F., Overkleeft, H.S., Saunders-Pullman, R., Chan, G.L., Liu, C.-J.

المصدر: EBioMedicine

وصف الملف: application/pdf

Relation: lucris-id: 22971457; https://hdl.handle.net/1887/44013

الاتاحة: https://hdl.handle.net/1887/44013
https://doi.org/10.1016/j.ebiom.2016.08.004

المؤلفون: Hughes, D, Malmenäs, M, Deegan, P, Elliott, P, Ginsberg, L, Hajioff, D, Ioannidis, A, Orteu, C, Ramaswami, U, West, M, Pastores, G, Jenkinson, C

Relation: https://ora.ox.ac.uk/objects/uuid:ce277b80-a936-4463-8df3-396c5738624b; https://doi.org/10.1136/jmedgenet-2011-100407

الاتاحة: https://doi.org/10.1136/jmedgenet-2011-100407
https://ora.ox.ac.uk/objects/uuid:ce277b80-a936-4463-8df3-396c5738624b

المؤلفون: Anderson, L. J., Henley, W. E., Wyatt, K. M., Nikolaou, V., Waldek, S., Hughes, D. A., Pastores, G. M., Logan, Stuart

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics, Wessex Classification Subject Headings::Paediatrics

Relation: http://dx.doi.org/10.1007/s10545-014-9693-8; Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. 2014, 37 (6):961-8 J. Inherit. Metab. Dis.; http://hdl.handle.net/11287/617986; Journal of inherited metabolic disease

الاتاحة: http://hdl.handle.net/11287/617986
https://doi.org/10.1007/s10545-014-9693-8