-
1دورية أكاديمية
المؤلفون: Lachmann, Robin H., Diaz, George A., Wasserstein, Melissa P., Armstrong, Nicole M., Yarramaneni, Abhimanyu, Kim, Yong, Kumar, Monica
المساهمون: Sanofi Genzyme
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
2دورية أكاديمية
المؤلفون: Kamenicky, Peter, Briot, Karine, Brandi, Maria Luisa, Cohen-Solal, Martine, Crowley, Rachel K, Keen, Richard, Kolta, Sami, Lachmann, Robin H, Lecoq, Anne-Lise, Ralston, Stuart H, Walsh, Jennifer S, Rylands, Angela J, Williams, Angela, Sun, Wei, Nixon, Annabel, Nixon, Mark, Javaid, Muhammad K
المساهمون: Kyowa Kirin International plc, Ultragenyx Pharmaceutical
المصدر: RMD Open ; volume 9, issue 1, page e002676 ; ISSN 2056-5933
-
3دورية أكاديمية
المؤلفون: Engelen, Marc, van Ballegoij, Wouter J. C., Mallack, Eric James, van Haren, Keith P., Köhler, Wolfgang, Salsano, Ettore, van Trotsenburg, A. S. P., Mochel, Fanny, Sevin, Caroline, Regelmann, Molly O., Tritos, Nicholas A., Halper, Alyssa, Lachmann, Robin H., Davison, James, Raymond, Gerald V., Lund, Troy C., Orchard, Paul J., Kuehl, Joern-Sven, Lindemans, Caroline A., Caruso, Paul, Turk, Bela Rui, Moser, Ann B., Vaz, Frédéric M., Ferdinandusse, Sacha, Kemp, Stephan, Fatemi, Ali, Eichler, Florian S., Huffnagel, Irene C.
المصدر: Engelen , M , van Ballegoij , W J C , Mallack , E J , van Haren , K P , Köhler , W , Salsano , E , van Trotsenburg , A S P , Mochel , F , Sevin , C , Regelmann , M O , Tritos , N A , Halper , A , Lachmann , R H , Davison , J , Raymond , G V , Lund , T C , Orchard , P J , Kuehl , J-S , Lindemans , C A , Caruso , P , Turk , B ....
الإتاحة: https://doi.org/10.1212/WNL.0000000000201374Test
https://research.vumc.nl/en/publications/275b8eac-425d-4520-a5b5-1db49f759533Test
http://www.scopus.com/inward/record.url?scp=85143144413&partnerID=8YFLogxKTest -
4دورية أكاديمية
المؤلفون: Hennis, Philip J., Murphy, Elaine, Meijer, Rick I., Lachmann, Robin H., Ramachandran, Radha, Bordoli, Claire, Rayat, Gurinder, Tomlinson, David J.
المصدر: Hennis , P J , Murphy , E , Meijer , R I , Lachmann , R H , Ramachandran , R , Bordoli , C , Rayat , G & Tomlinson , D J 2022 , ' Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa : an observational study ' , Orphanet Journal of Rare Diseases , vol. 17 , no. 1 , 28 . https://doi.org/10.1186/s13023-022-02184-1Test
الإتاحة: https://doi.org/10.1186/s13023-022-02184-1Test
https://research.vumc.nl/en/publications/f1a4cb78-13ad-4aef-a90f-8a74ad9546c2Test
http://www.scopus.com/inward/record.url?scp=85123972679&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Hennis, Philip J, Murphy, Elaine, Meijer, Rick I, Lachmann, Robin H, Ramachandran, Radha, Bordoli, Claire, Rayat, Gurinder, Tomlinson, David J
وصف الملف: text
العلاقة: https://eprints.soton.ac.uk/456262/1/s13023_022_02184_1.pdfTest; Hennis, Philip J, Murphy, Elaine, Meijer, Rick I, Lachmann, Robin H, Ramachandran, Radha, Bordoli, Claire, Rayat, Gurinder and Tomlinson, David J (2022) Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study. Orphanet Journal of Rare Diseases, 17 (1), [28]. (doi:10.1186/s13023-022-02184-1 ).
-
6دورية أكاديمية
المؤلفون: Brandi, Maria Luisa, Jan de Beur, Suzanne, Briot, Karine, Carpenter, Thomas, Cheong, Hae Il, Cohen-Solal, Martine, Crowley, Rachel K., Eastell, Richard, Imanishi, Yasuo, Imel, Erik A., Ing, Steven W., Insogna, Karl, Ito, Nobuaki, Javaid, Kassim, Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H., Perwad, Farzana, Pitukcheewanont, Pisit, Portale, Anthony, Ralston, Stuart H., Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Sun, Wei, Williams, Angela, Nixon, Annabel, Takeuchi, Yasuhiro
المساهمون: Cheong, Hae Il
العلاقة: Calcified Tissue International, Vol.111 No.4, pp.409-418; https://hdl.handle.net/10371/185525Test; 000836094800002; 2-s2.0-85135554629; 171578
-
7دورية أكاديمية
المؤلفون: D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
وصف الملف: application/pdf
العلاقة: https://orca.cardiff.ac.uk/id/eprint/145464/1/s13023-021-02034-6-1.pdfTest; D'Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R. and Vellodi, A. 2021. In-depth phenotyping for clinical stratification of Gaucher disease. Orphanet Journal of Rare Diseases 16 (1) , 431. 10.1186/s13023-021-02034-6 https://doi.org/10.1186/s13023-021-02034-6Test file https://orca.cardiff.ac.uk/id/eprint/145464/1/s13023-021-02034-6-1.pdfTest
الإتاحة: https://doi.org/10.1186/s13023-021-02034-6Test
https://orca.cardiff.ac.uk/id/eprint/145464Test/
https://orca.cardiff.ac.uk/id/eprint/145464/1/s13023-021-02034-6-1.pdfTest -
8دورية أكاديمية
المؤلفون: Briot, Karine, Portale, Anthony A., Brandi, Maria Luisa, Carpenter, Thomas O., Cheong, Hae Ii, Cohen-Solal, Martine, Crowley, Rachel K., Eastell, Richard, Imanishi, Yasuo, Ing, Steven, Insogna, Karl, Ito, Nobuaki, de Beur, Suzanne Jan, Javaid, Muhammad K., Kamenicky, Peter, Keen, Richard, Kubota, Takuo, Lachmann, Robin H., Perwad, Farzana, Pitukcheewanont, Pisit, Ralston, Stuart H., Takeuchi, Yasuhiro, Tanaka, Hiroyuki, Weber, Thomas J., Yoo, Han-Wook, Nixon, Annabel, Nixon, Mark, Sun, Wei, Williams, Angela, Imel, Erik A.
المساهمون: Medicine, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Therapeutics, Patient reported outcome measures, Outcome assessment, Healthcare
وصف الملف: application/pdf
العلاقة: RMD Open; Briot K, Portale AA, Brandi ML, et al. Burosumab treatment in adults with X-linked hypophosphataemia: 96-week patient-reported outcomes and ambulatory function from a randomised phase 3 trial and open-label extension. RMD Open. 2021;7(3):e001714. doi:10.1136/rmdopen-2021-001714; https://hdl.handle.net/1805/31986Test
-
9دورية أكاديمية
المؤلفون: D’Amore, Simona, Page, Kathleen, Donald, Aimée, Taiyari, Khadijeh, Tom, Brian, Deegan, Patrick, Tan, Chong Y., Poole, Kenneth, Jones, Simon A., Mehta, Atul, Hughes, Derralynn, Sharma, Reena, Lachmann, Robin H., Chakrapani, Anupam, Geberhiwot, Tarekegn, Santra, Saikat, Banka, Siddarth, Cox, Timothy M., Cox, T. M., Platt, F. M., Banka, S., Chakrapani, A., Deegan, P. B., Geberhiwot, T., Hughes, D. A., Jones, S., Lachmann, R. H., Santra, S., Sharma, R., Vellodi, A.
المساهمون: Medical Research Council, National Institute for Health Research
المصدر: Orphanet Journal of Rare Diseases ; volume 16, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
10دورية أكاديمية
المؤلفون: Thurberg, Beth L., Diaz, George A., Lachmann, Robin H., Schiano, Thomas, Wasserstein, Melissa P., Ji, Allena J., Zaher, Atef, Peterschmitt, M. Judith
المساهمون: Sanofi Genzyme., Sanofi Genzyme's Clinical Development, Clinical and Exploratory Pharmacology, Department of Pathology
المصدر: Molecular Genetics and Metabolism ; volume 131, issue 1-2, page 245-252 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2020.06.010Test
https://api.elsevier.com/content/article/PII:S1096719220301499?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719220301499?httpAccept=text/plainTest
