المؤلفون: Skrahin, A, Horowitz, M, Istaiti, M, Skrahina, V, Lukas, J, Yahalom, G, Cohen, ME, Revel-Vilk, S, Goker-Alpan, O, Becker-Cohen, M, Hassin-Baer, S, Svenningsson, P, Rolfs, A, Zimran, A

المصدر: International journal of molecular sciences. 25(13)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:159014342

المؤلفون: Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J, International Working Group of Gaucher Disease (IWGGD)

المصدر: essn: 1750-1172 ; nlmid: 101266602

مصطلحات موضوعية: Biomarkers, Enzyme activity, Gaucher disease, Genetic testing, Humans, Clinical Laboratory Techniques, Glucosylceramidase, Glucosylceramides, Patient-Centered Care

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/345622

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/345622
https://doi.org/10.17863/CAM.93043

المؤلفون: Hughes, DA, Deegan, P, Giraldo, P, Göker-Alpan, Ö, Lau, H, Lukina, E, Revel-Vilk, S, Scarpa, M, Botha, J, Gadir, N, Zimran, A

المصدر: Journal of Clinical Medicine , 12 (12) , Article 4017. (2023)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10173849/1/jcm-12-04017.pdf; https://discovery.ucl.ac.uk/id/eprint/10173849/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10173849/1/jcm-12-04017.pdf
https://discovery.ucl.ac.uk/id/eprint/10173849/

المؤلفون: Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J

المساهمون: Dardis, A, Michelakakis, H, Rozenfeld, P, Fumic, K, Wagner, J, Pavan, E, Fuller, M, Revel-Vilk, S, Hughes, D, Cox, T, Aerts, J

مصطلحات موضوعية: Biomarker, Enzyme activity, Gaucher disease, Genetic testing

Relation: volume:17; issue:1; firstpage:442; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11390/1239204; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144590247

الاتاحة: https://hdl.handle.net/11390/1239204
https://doi.org/10.1186/s13023-022-02573-6

المؤلفون: Dardis, Andrea Elena, Michelakakis, Helen, Rozenfeld, Paula Adriana, Fumic, Ksenija, Wagner, J., Pavan, Eleonora, Fuller, M., Revel‑Vilk, S., Hughes, D., Cox, Timothy, Aerts, Johannes

مصطلحات موضوعية: Biología, Ciencias Médicas, Gaucher disease, Biomarkers, Enzyme activity, Genetic testing

وصف الملف: application/pdf

Relation: http://sedici.unlp.edu.ar/handle/10915/154815

الاتاحة: http://sedici.unlp.edu.ar/handle/10915/154815

المؤلفون: Azoulay, D., Naamad, M., Frydman, D., Broide, E., Zimran, A., Stemer, G., Revel-Vilk, S.

المصدر: HemaSphere ; volume 6, page 1514-1515 ; ISSN 2572-9241

الاتاحة: http://dx.doi.org/10.1097/01.hs9.0000849388.86217.d1
https://journals.lww.com/10.1097/01.HS9.0000849388.86217.d1

المؤلفون: Abulafia, A., Spectre, G., Ziv, E., Geiger, K. R., Sarsor, Z., Ron, N., Beery, E., Revel-Vilk, S., Naamad, M., Raanani, P., Uziel, O., Rozovski, U.

المصدر: HemaSphere ; volume 6, page 869-870 ; ISSN 2572-9241

الاتاحة: http://dx.doi.org/10.1097/01.hs9.0000846784.53763.59
https://journals.lww.com/10.1097/01.HS9.0000846784.53763.59

المؤلفون: Collin-Histed, T, Milce, J, Reed, S, Braham-Chaouche, L, Jaffe, D, Revel-Vilk, S, Istaiti, M, Stoodley, M, Haf Davies, E

المصدر: Value in Health ; volume 25, issue 12, page S497 ; ISSN 1098-3015

الاتاحة: http://dx.doi.org/10.1016/j.jval.2022.09.2466
https://api.elsevier.com/content/article/PII:S109830152204671X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S109830152204671X?httpAccept=text/plain

المؤلفون: Male, C., Lensing, A. W. A., Palumbo, J. S., Kumar, R., Nurmeev, I., Hege, K., Bonnet, D., Connor, P., Hooimeijer, H. L., Torres, M., Chan, A. K. C., Kenet, G., Holzhauer, S., Santamaría, A., Amedro, P., Chalmers, E., Simioni, P., Bhat, R. V., Yee, D. L., Lvova, O., Beyer-Westendorf, J., Biss, T. T., Martinelli, I., Saracco, P., Peters, M., Kállay, K., Gauger, C. A., Massicotte, M. P., Young, G., Pap, A. F., Majumder, M., Smith, W. T., Heubach, J. F., Berkowitz, S. D., Thelen, K., Kubitza, D., Crowther, M., Prins, M. H., Monagle, P., Molinari, A. C., Nowak, Göttl, U., Chain, J., Robertson, J., Thom, K., Streif, W., Schwarz, R., Schmitt, K., Grangl, G., Van Damme, A., Maes, P., Labarque, V., Petrilli, A., Loggeto, S., Azeka, E., Brandao, L., Le, D., Sabapathy, C., Giordano, P., Wu, R., Ding, J., Huang, W., Mao, J., Lähteenmäki, P., Decramer, S., Bernig, T., Chada, M., Chan, G., Kally, K., Nolan, B., Revel-Vilk, S., Tamary, H., Levin, C., Tormene, D., Abbattista, M., Artoni, A., Ikeyama, T., Inuzuka, R., Yasukochi, S., Morales Soto, M., Solis Labastida, K. A., Suijker, M. H., Bartels, M., Tamminga, R. Y., Van Ommen, C. H., Te Loo, D. M., Anjos, R., Zubarovskaya, L., Popova, N., Samochatova, E., Belogurova, M., Svirin, P., Shutova, T., Lebedev, V., Barbarash, O., Koh, P. L., Mei, J. C., Podracka, L., Berrueco, R., Fernandez, M. F., Frisk, T., Grunt, S., Rischewski, J., Albisetti-Pedroni, M., Antmen, A., Tokgoz, H., Karakas, Z., Motwani, J., Williams, M., Grainger, J., Payne, J., Richards, M., Baird, S., Bhatnagar, N., Aramburo, A., Crary, S., Wynn, T., Carpenter, S., Ahuja, S., Goldenberg, N., Woods, G., Godder, K., Scott-Emuakpor, A., Roach, G., Raffini, L., Shah, N., Shah, S., Thornburg, C., Zia, A., Berkow, R.

المصدر: Lancet Haematol. ; The Lancet Haematology

مصطلحات موضوعية: ANTICOAGULANT AGENT, ANTIVITAMIN K, FONDAPARINUX, HEPARIN, LOW MOLECULAR WEIGHT HEPARIN, RIVAROXABAN, ADOLESCENT, ANTICOAGULATION, ARTICLE, BLEEDING, CHILD, CONTROLLED STUDY, DISEASE BURDEN, DRUG EFFICACY, DRUG SAFETY, FEMALE, FOLLOW UP, HUMAN, INFANT, INTENTION TO TREAT ANALYSIS, MAJOR CLINICAL STUDY, MALE, MULTICENTER STUDY, OPEN STUDY, PHASE 3 CLINICAL TRIAL, PRIORITY JOURNAL, RANDOMIZED CONTROLLED TRIAL, TREATMENT OUTCOME, VENOUS THROMBOEMBOLISM, CLINICAL TRIAL

وصف الملف: application/pdf

Relation: Rivaroxaban Compared with Standard Anticoagulants for the Treatment of Acute Venous Thromboembolism in Children: a Randomised, Controlled, Phase 3 Trial / C. Male, A. W. A. Lensing, J. S. Palumbo et al. // The Lancet Haematology. — 2020. — Vol. 7. — Iss. 1. — P. e18-e27.; All Open Access, Green; http://elar.urfu.ru/handle/10995/111230; 85076707238

الاتاحة: http://elar.urfu.ru/handle/10995/111230
https://doi.org/10.1016/S2352-3026(19)30219-4

المؤلفون: Schiffmann, R, Sevigny, J, Rolfs, A, Davies, EH, Goker-Alpan, O, Abdelwahab, M, Vellodi, A, Mengel, E, Lukina, E, Yoo, H-W, Collin-Histed, T, Narita, A, Dinur, T, Revel-Vilk, S, Arkadir, D, Szer, J, Wajnrajch, M, Ramaswami, U, Sidransky, E, Donald, A, Zimran, A

Relation: Schiffmann, R., Sevigny, J., Rolfs, A., Davies, E. H., Goker-Alpan, O., Abdelwahab, M., Vellodi, A., Mengel, E., Lukina, E., Yoo, H. -W., Collin-Histed, T., Narita, A., Dinur, T., Revel-Vilk, S., Arkadir, D., Szer, J., Wajnrajch, M., Ramaswami, U., Sidransky, E. ,. Zimran, A. (2020). The definition of neuronopathic Gaucher disease. JOURNAL OF INHERITED METABOLIC DISEASE, 43 (5), pp.1056-1059. https://doi.org/10.1002/jimd.12235.; http://hdl.handle.net/11343/251458

الاتاحة: http://hdl.handle.net/11343/251458

المؤلفون: Dinur, T, Istaiti, M, Frydman, D, Becker-Cohen, M, Szer, J, Zimran, A, Revel-Vilk, S

Relation: pii: 10.1186/s13023-020-01544-z; Dinur, T., Istaiti, M., Frydman, D., Becker-Cohen, M., Szer, J., Zimran, A. & Revel-Vilk, S. (2020). Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease. ORPHANET JOURNAL OF RARE DISEASES, 15 (1), https://doi.org/10.1186/s13023-020-01544-z.; http://hdl.handle.net/11343/274068

الاتاحة: http://hdl.handle.net/11343/274068

المؤلفون: Elitzur S, Vora A, Burkhardt B, Inaba H, Attarbaschi A, Baruchel A, Escherich G, Gibson B, Liu H-C, Loh M, Moorman AV, Moricke A, Pieters R, Uyttebroeck A, Baird S, Bartram J, Barzilai-Birenboim S, Batra S, Ben-Harosh M, Bertrand Y, Buitenkamp T, Caldwell K, Drut R, Geerlinks AV, Gilad G, Grainger J, Haouy S, Heaney N, Huang M, Ingham D, Krenova Z, Kuhlen M, Lehrnbecher T, Manabe A, Niggli F, Paris C, Revel-Vilk S, Rohrlich P, Sinno MG, Szczepanski T, Tamesberger M, Warrier R, Wolfl M, Nirel R, Izraeli S, Borkhardt A, Schmiegelow K

المصدر: Blood, 2023

Relation: https://eprints.ncl.ac.uk/289071

الاتاحة: https://eprints.ncl.ac.uk/289071

المؤلفون: Hughes D. A., Deegan P., Giraldo P., Goker-Alpan O., Lau H., Lukina E., Revel-Vilk S., Scarpa M., Botha J., Gadir N., Zimran A.

المساهمون: Hughes, D. A., Deegan, P., Giraldo, P., Goker-Alpan, O., Lau, H., Lukina, E., Revel-Vilk, S., Scarpa, M., Botha, J., Gadir, N., Zimran, A.

مصطلحات موضوعية: enzyme replacement therapy, Gaucher disease, substrate reduction therapy, treatment switch

Relation: info:eu-repo/semantics/altIdentifier/pmid/36079085; info:eu-repo/semantics/altIdentifier/wos/WOS:000851888500001; volume:11; issue:17; firstpage:5158; journal:JOURNAL OF CLINICAL MEDICINE; https://hdl.handle.net/11577/3486182; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85138109760

الاتاحة: https://hdl.handle.net/11577/3486182
https://doi.org/10.3390/jcm11175158

المؤلفون: Ito, Y, Carss, KJ, Duarte, ST, Hartley, T, Keren, B, Kurian, MA, Marey, I, Charles, P, Mendonça, C, Nava, C, Pfundt, R, Sanchis-Juan, A, Van Bokhoven, H, Van Essen, A, Van Ravenswaaij-Arts, C, Boycott, KM, Kernohan, KD, Dyack, S, Raymond, FL, Aitman, T, Bennett, D, Caulfield, M, Chinnery, P, Gale, D, Koziell, A, Kuijpers, TW, Laffan, MA, Maher, E, Markus, HS, Morrell, NW, Ouwehand, WH, Perry, DJ, Roberts, I, Smith, KGC, Thrasher, A, Watkins, H, Williamson, C, Woods, G, Ashford, S, Bradley, JR, Fletcher, D, Hammerton, T, James, R, Kingston, N, Penkett, CJ, Stirrups, K, Veltman, M, Young, T, Brown, M, Clements-Brod, N, Davis, J, Dewhurst, E, Dolling, H, Erwood, M, Frary, A, Linger, R, Martin, JM, Papadia, S, Rehnstrom, K, Stark, H, Allsup, D, Austin, S, Bakchoul, T, Bariana, TK, Bolton-Maggs, P, Chalmers, E, Collins, J, Collins, P, Erber, WN, Everington, T, Favier, R, Freson, K, Furie, B, Gattens, M, Gebhart, J, Gomez, K, Greene, D, Greinacher, A, Gresele, P, Hart, D, Heemskerk, JWM, Henskens, Y, Kazmi, R, Keeling, D, Kelly, AM, Lambert, MP, Lentaigne, C, Liesner, R, Makris, M, Mangles, S, Mathias, M, Millar, CM, Mumford, A, Nurden, P, Payne, J, Pasi, J, Peerlinck, K, Revel-Vilk, S, Richards, M, Rondina, M, Roughley, C, Schulman, S, Schulze, H, Scully, M, Sivapalaratnam, S, Stubbs, M, Tait, RC, Talks, K, Thachil, J, Toh, C-H, Turro, E, Van Geet, C, De Vries, M, Warner, TQ, Watson, H, Westbury, S, Furnell, A, Mapeta, R, Rayner-Matthews, P, Simeoni, I, Staines, S, Stephens, J, Watt, C, Whitehorn, D, Attwood, A, Daugherty, L, Deevi, SVV, Halmagyi, C, Hu, F, Matser, V, Meacham, S, Megy, K, Shamardina, O, Titterton, C, Tuna, S, Yu, P, Von Ziegenweldt, J, Astle, W, Bleda, M, Gräf, S, Haimel, M, Lango-Allen, H, Richardson, S, Calleja, P, Rankin, S, Turek, W, Anderson, J, Bryson, C, Carmichael, J, McJannet, C, Stock, S, Allen, L, Ambegaonkar, G, Armstrong, R, Arno, G, Bitner-Glindzicz, M, Brady, A, Canham, N, Chitre, M, Clement, E, Clowes, V, Deegan, P, Deshpande, C, Doffinger, R, Firth, H, Flinter, F, French, C, Gardham, A, Ghali, N, Gissen, P, Grozeva, D, Henderson, R, Hensiek, A, Holden, S, Holder, M, Holder, S, Hurst, J, Josifova, D, Krishnakumar, D, Lees, M, Maclaren, R, Maw, A, Mehta, S, Michaelides, M, Moore, A, Murphy, E, Park, S-M, Parker, A, Patch, C, Paterson, J, Rankin, J, Reid, E, Rosser, E, Sandford, R, Santra, S, Scott, R, Sohal, A, Stein, P, Thomas, E, Thompson, D, Tischkowitz, M, Vogt, J, Wakeling, E, Wassmer, E, Webster, A, Ali, S, Boggard, HJ, Church, C, Coghlan, G, Cookson, V, Corris, PA, Creaser-Myers, A, Dacosta, R, Dormand, N, Eyries, M, Gall, H, Ghataorhe, PK, Ghio, S, Ghofrani, A, Gibbs, JSR, Girerd, B, Greenhalgh, A, Hadinnapola, C, Houweling, AC, Humbert, M, Veld, AH, Kennedy, F, Kiely, DG, Kovacs, G, Lawrie, A, Ross, RVM, Machado, R, Masati, L, Meehan, S, Moledina, S, Montani, D, Othman, S, Peacock, AJ, Pepke-Zaba, J, Pollock, V, Polwarth, G, Ranganathan, L, Rhodes, CJ, Rue-Albrecht, K, Schotte, G, Shipley, D, Soubrier, F, Southgate, L, Scelsi, L, Suntharalingam, J, Tan, Y, Toshner, M, Treacy, CM, Trembath, R, Noordegraaf, AV, Walker, S, Wanjiku, I, Wharton, J, Wilkins, M, Wort, SJ, Yates, K, Alachkar, H, Antrobus, R, Arumugakani, G, Bacchelli, C, Baxendale, H, Bethune, C, Bibi, S, Booth, C, Browning, M, Burns, S, Chandra, A, Cooper, N, Davies, S, Devlin, L, Drewe, E, Edgar, D, Egner, W, Ghurye, R, Gilmour, K, Goddard, S, Gordins, P, Grigoriadou, S, Hackett, S, Hague, R, Harper, L, Hayman, G, Herwadkar, A, Huissoon, A, Jolles, S, Kelleher, P, Kumararatne, D, Lear, S, Longhurst, H, Lorenzo, L, Maimaris, J, Manson, A, McDermott, E, Murng, S, Nejentsev, S, Noorani, S, Oksenhendler, E, Ponsford, M, Qasim, W, Quinti, I, Richter, A, Samarghitean, C, Sargur, R, Savic, S, Seneviratne, S, Sewell, C, Staples, E, Stauss, H, Thaventhiran, J, Thomas, M, Welch, S, Willcocks, L, Yeatman, N, Yong, P, Ancliff, P, Babbs, C, Layton, M, Louka, E, McGowan, S, Mead, A, Roy, N, Chambers, J, Dixon, P, Estiu, C, Hague, B, Marschall, H-U, Simpson, M, Chong, S, Emmerson, I, Ginsberg, L, Gosal, D, Hadden, R, Horvath, R, Mahdi-Rogers, M, Manzur, A, Marshall, A, Matthews, E, McCarthy, M, Reilly, M, Renton, T, Rice, A, Themistocleous, A, Vale, T, Van Zuydam, N, Ormondroyd, L, Hudson, G, Wei, W, Man, P, Whitworth, J, Afzal, M, Colby, E, Saleem, M, Alavijeh, OS, Cook, HT, Johnson, S, Levine, AP, Wong, EKS, Tan, R, Mackenzie, A, Majewski, J, Brudno, M, Bulman, D, Dyment, D

Relation: https://ora.ox.ac.uk/objects/uuid:1ae68034-4aff-4784-9e83-ec80662de0ea; https://doi.org/10.1016/j.ajhg.2018.06.001

الاتاحة: https://doi.org/10.1016/j.ajhg.2018.06.001
https://ora.ox.ac.uk/objects/uuid:1ae68034-4aff-4784-9e83-ec80662de0ea

المؤلفون: Farmery, JHR, Smith, ML, Lynch, AG, Huissoon, A, Furnell, A, Mead, A, Levine, AP, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, AJ, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, in't Veld, AH, Maw, A, Kelly, AM, Moore, A, Noordegraaf, AV, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, AC, Girerd, B, Furie, B, Treacy, CM, Millar, CM, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Van Geet, C, Babbs, C, Bryson, C, Penkett, CJ, Rhodes, CJ, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, DG, Gosal, D, Perry, DJ, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, EKS, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, FL, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, HT, Alachkar, H, Allen, HL, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, HJ, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, HS, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, JSR, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, JM, Martin, J, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, JWM, Gebhart, J, Davis, J, Pasi, J, Bradley, JR, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, KGC, Carss, K, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, MA, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, MP, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Van Zuydam, N, Kingston, N, Ghali, N, Cooper, N, Morrell, NW, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, OS, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Yu-Wai-Man, P, Corris, PA, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, PK, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, RC, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, MackenzieRoss, RV, Henderson, R, MacLaren, R, James, R, Ghurye, R, DaCosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Deevi, SVV, Graf, S, Ghio, S, Wort, SJ, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, TW, Bariana, TK, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, TQ, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, WN, Ouwehand, WH, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y

المصدر: Scientific Reports , 8 , Article 13376. (2018)

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10056800/1/Bacchelli%20s41598-018-31524-0.pdf; https://discovery.ucl.ac.uk/id/eprint/10056800/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10056800/1/Bacchelli%20s41598-018-31524-0.pdf
https://discovery.ucl.ac.uk/id/eprint/10056800/

المؤلفون: Elitzur, S., Vora, A., Burkhardt, B., Inaba, H., Attarbaschi, A., Baruchel, A., Escherich, G., Gibson, B., Liu, H., Loh, M., Moorman, A., Moricke, A., Pieters, R., Uyttebroeck, A., Baird, S., Bartram, J., Ben-Harosh, M., Bertrand, Y., Buitenkamp, T., Caldwell, K., Drut, R., Geerlinks, A., Grainger, J., Haouy, S., Heaney, N., Huang, M., Ingham, D., Krenova, Z., Kuhlen, Michaela, Lehrnbecher, T., Manabe, A., Niggli, F., Paris, C., Revel-Vilk, S., Rohrlich, P., Sandeep, B., Sinno, M., Szczepanski, T., Tamesberger, M., Warrier, R., Wolfl, M., Nirel, R., Izraeli, S., Borkhardt, A., Schmiegelow, K.

Relation: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/103537; https://doi.org/10.1016/s0145-2126(22)00201-6

الاتاحة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/103537
https://doi.org/10.1016/s0145-2126(22)00201-6

المؤلفون: Becker-Cohen, M, Szer, J, Arbel, N, Frydman, D, Dinur, T, Istaiti, M, Revel-Vilk, S, Zimran, A

Relation: Becker-Cohen, M., Szer, J., Arbel, N., Frydman, D., Dinur, T., Istaiti, M., Revel-Vilk, S. & Zimran, A. (2022). Rapid velaglucerase alfa infusion for Gaucher disease: 5-year data. INTERNAL MEDICINE JOURNAL, 52 (9), pp.1645-1646. https://doi.org/10.1111/imj.15898.; http://hdl.handle.net/11343/338053

الاتاحة: http://hdl.handle.net/11343/338053

المؤلفون: Hedlund-Treutiger, I, Revel-Vilk, S, Blanchette, VS, Curtin, JA, Lillicrap, D, Rand, ML

المصدر: Journal of pediatric hematology/oncology. 26(8):488-491

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1952267

المؤلفون: Gámez-Díaz, L. (Laura), August, D. (Dietrich), Stepensky, P. (Polina), Revel-Vilk, S. (Shoshana), Seidel, Markus G., Noriko, M. (Mitsuiki), Morio, T. (Tomohiro), Worth, Austen J.J., Blessing, J. (Jacob), Van de Veerdonk, F. (Frank), Feuchtinger, T. (Tobias), Kanariou, M. (Maria), Schmitt-Graeff, A. (Annette), Jung, S. (Sophie), Seneviratne, S. (Suranjith), Burns, S. (Siobhan), Belohradsky, Bernd H., Rezaei, N. (Nima), Bakhtiar, S. (Shahrzad), Speckmann, C. (Carsten), Jordan, M. (Michael), Grimbacher, B. (Bodo)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Sciences pharmaceutiques

الاتاحة: https://linkinghub.elsevier.com/retrieve/pii/S0091674915013652

المؤلفون: Dardis, A., Michelakakis, H., Rozenfeld, P., Fumic, K., Wagner, J., Pavan, E., Fuller, M., Revel-Vilk, S., Hughes, D., Cox, T., Aerts, J.

المصدر: Orphanet Journal of Rare Diseases; 12/21/2022, Vol. 17 Issue 1, p1-17, 17p

مصطلحات موضوعية: GAUCHER'S disease, DIAGNOSIS, CLINICAL pathology, TESTING laboratories, GENETIC disorder diagnosis, LYSOSOMAL storage diseases