المؤلفون: Biegstraaten, M, Cox, TM, Belmatoug, N, Berger, MG, Collin-Histed, T, Dahl, SV, Di Rocco, M, Fraga, C, Giona, F, Giraldo, P, Hasanhodzic, M, Hughes, DA, Iversen, PO, Kiewiet, AI, Lukina, E, Machaczka, M, Marinakis, T, Mengel, E, Pastores, GM, Plockinger, U, Rosenbaum, H, Serratrice, C, Symeonidis, A, Szer, J, Timmerman, J, Tylki-Szymanska, A, Hubshman, MW, Zafeiriou, DI, Zimran, A, Hollak, CEM

المصدر: Blood cells, molecules & diseases. 68:203-208

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137154815Test

المؤلفون: Sirks, M.J., van Dijk, EHC, Rosenberg, N., Hollak, CEM, Aslanis, S., Cheung, CMG, Chowers, I., Eandi, C.M., Freund, K.B., Holz, F.G., Kaiser, P.K., Lotery, A.J., Ohno-Matsui, K., Querques, G., Subhi, Y., Tadayoni, R., Wykoff, C.C., Zur, D., Diederen, RMH, Boon, CJF, Schlingemann, R.O.

المصدر: Acta ophthalmologica, vol. 100, no. 7, pp. e1522-e1532

مصطلحات موضوعية: Central Serous Chorioretinopathy/drug therapy, Choroidal Neovascularization/drug therapy, Fluorescein Angiography, Humans, Photochemotherapy/methods, Photosensitizing Agents/therapeutic use, Porphyrins/therapeutic use, Treatment Outcome, Triazenes, Verteporfin/therapeutic use, age-related macular degeneration, central serous chorioretinopathy, choroidal haemangioma, photodynamic therapy, polypoidal choroidal vasculopathy, verteporfin

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35388619; info:eu-repo/semantics/altIdentifier/eissn/1755-3768; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_DF6DC6C9C9878; https://serval.unil.ch/notice/serval:BIB_DF6DC6C9C987Test; urn:issn:1755-375X; https://serval.unil.ch/resource/serval:BIB_DF6DC6C9C987.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DF6DC6C9C9878Test

الإتاحة: https://doi.org/10.1111/aos.15148Test
https://serval.unil.ch/notice/serval:BIB_DF6DC6C9C987Test
https://serval.unil.ch/resource/serval:BIB_DF6DC6C9C987.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_DF6DC6C9C9878Test

المؤلفون: Welsink-Karssies, MM, Ferdinandusse, S, Geurtsen, GJ, Hollak, CEM, Huidekoper, Hidde, Janssen, M, Langendonk, Janneke, v.d. Lee, JH, O'Flaherty, R, Oostrom, KJ, Roosendaal, Stefan, Rubio-Gozalbo, ME, Saldova, R, Treacy, EP, Vaz, FM, de Vries, MC, Engelen, MP, Bosch, A

المصدر: Welsink-Karssies , MM , Ferdinandusse , S , Geurtsen , GJ , Hollak , CEM , Huidekoper , H , Janssen , M , Langendonk , J , v.d. Lee , JH , O'Flaherty , R , Oostrom , KJ , Roosendaal , S , Rubio-Gozalbo , ME , Saldova , R , Treacy , EP , Vaz , FM , de Vries , MC , Engelen , MP & Bosch , A 2020 , ' Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers ' , Brain Communications , vol. 2 , no. 1 , 06 . https://doi.org/10.1093/braincomms/fcaa006Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1093/braincomms/fcaa006Test
https://pure.eur.nl/en/publications/b1755696-3676-4fe8-82f6-4e174eea5c06Test
https://pure.eur.nl/ws/files/48382537/Repub_131392_O-A.pdfTest

المؤلفون: van der Veen, SJ, Vlietstra, Wytze, van der Dussen, L, van Kuilenburg, ABP, Dijkgraaf, MG, Lenders, M, Brand, E (Eddy), Wanner, C, Hughes, D, Elliott, PM, Hollak, CEM, Langeveld, Mirte

المصدر: van der Veen , SJ , Vlietstra , W , van der Dussen , L , van Kuilenburg , ABP , Dijkgraaf , MG , Lenders , M , Brand , E , Wanner , C , Hughes , D , Elliott , PM , Hollak , CEM & Langeveld , M 2020 , ' Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease ' , International Journal of Molecular Sciences , vol. 21 , no. 16 , 5784 . https://doi.org/10.3390/ijms21165784Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/ijms21165784Test
https://pure.eur.nl/en/publications/7d9024d7-902e-4a67-b522-a9082caae455Test
https://pure.eur.nl/ws/files/48355252/Repub_129640_O-A.pdfTest
http://hdl.handle.net/1765/129640Test

المؤلفون: Welsink-Karssies, MM, van Harskamp, D, Ferdinandusse, S, Hollak, CEM, Huidekoper, Hidde, Janssen, MCH, Kemper, EM, Langendonk, Janneke, Rubio-Gozalbo, ME, de Vries, MC, Wijburg, FA, Schierbeek, H, Bosch, AM

المصدر: Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/jimd.12207Test
https://pure.eur.nl/en/publications/cf8b8908-4d15-4485-adc2-eb3ea8c6f988Test
https://pure.eur.nl/ws/files/48337409/Repub_128728_O-A.pdfTest

المؤلفون: Welsink-Karssies, MM, van Weeghel, M, Hollak, CEM, Elfrink, HL, Janssen, MCH, Lai, K, Langendonk, Janneke, Oussoren, Esmeralda, Ruiter, JPN, Treacy, EP, Boersma - de Vries, M, Ferdinandusse, S, Bosch, AM

المصدر: Welsink-Karssies , MM , van Weeghel , M , Hollak , CEM , Elfrink , HL , Janssen , MCH , Lai , K , Langendonk , J , Oussoren , E , Ruiter , JPN , Treacy , EP , Boersma - de Vries , M , Ferdinandusse , S & Bosch , AM 2020 , ' The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes ' , Molecular Genetics and Metabolism , vol. 129 , pp. 171-176 . https://doi.org/10.1016/j.ymgme.2020.01.002Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.ymgme.2020.01.002Test
https://pure.eur.nl/en/publications/d61c8930-7ddb-406b-93c0-301a769d925eTest
https://pure.eur.nl/ws/files/48300535/1-s2.0-S109671921931323X-main.pdfTest

المؤلفون: Welsink-Karssies, MM, Oostrom, KJ, Hermans, ME, Hollak, CEM, Janssen, MC, Langendonk, Janneke, Oussoren, Esmeralda, Gozalbo, MER, Boersma - de Vries, M, Geurtsen, GJ, Bosch, AM

المصدر: Welsink-Karssies , MM , Oostrom , KJ , Hermans , ME , Hollak , CEM , Janssen , MC , Langendonk , J , Oussoren , E , Gozalbo , MER , Boersma - de Vries , M , Geurtsen , GJ & Bosch , AM 2020 , ' Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities ' , Orphanet Journal of Rare Diseases , vol. 15 , no. 1 , 42 . https://doi.org/10.1186/s13023-019-1277-0Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13023-019-1277-0Test
https://pure.eur.nl/en/publications/a9c3cdbf-e6c7-4095-9d0e-451e93c9cbe4Test
https://pure.eur.nl/ws/files/48288405/Repub-124672-OA.pdfTest

المؤلفون: Simons, N, Debray, FG, Schaper, NC, Kooi, ME, Feskens, EJM, Hollak, CEM, Lindeboom, L, Koek, GH, Bons, JAP, Lefeber, DJ, Hodson, L, Schalkwijk, CG, Stehouwer, CDA, Cassiman, D, Brouwers, MCGJ

العلاقة: https://ora.ox.ac.uk/objects/uuid:f119190f-a432-4281-a1e5-dd7991c4e5dcTest; https://doi.org/10.1210/jc.2018-02795Test

الإتاحة: https://doi.org/10.1210/jc.2018-02795Test
https://ora.ox.ac.uk/objects/uuid:f119190f-a432-4281-a1e5-dd7991c4e5dcTest

المؤلفون: Postema, PG, Schwartz, PJ, Arbelo, E, Bannenberg, WJ, Behr, ER, Belhassen, B, Brugada, J, Brugada, P, Camm, AJ, Casado-Arroyo, R, 't Hoen, E, Hollak, CEM, Kaeaeb, S, Lambiase, PD, Leenhardt, A, Priori, SG, Probst, V, Stunnenberg, BC, Tfelt-Hansen, J, Van Engelen, BGM, Veltmann, C, Viskin, S, Wilde, AAM

المصدر: European Heart Journal , 41 (5) pp. 614-617. (2020)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10097561/3/Lambiase_Mexiletine%20at%20danger%202019%2011%2027_ETH.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10097561Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10097561/3/Lambiase_Mexiletine%20at%20danger%202019%2011%2027_ETH.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10097561Test/

المؤلفون: Oussoren, Esmeralda, Eerd, David, Murphy, E, Lachmann, R, van der Meijden, JC (Chris), Hoefsloot, EH, Verdijk, Rob, Ruijter, George, Maas, M, Hollak, CEM, Langendonk, Janneke, van der Ploeg, Ans, Langeveld, M

المصدر: Oussoren , E , Eerd , D , Murphy , E , Lachmann , R , van der Meijden , JC , Hoefsloot , EH , Verdijk , R , Ruijter , G , Maas , M , Hollak , CEM , Langendonk , J , van der Ploeg , A & Langeveld , M 2018 , ' Mucolipidosis type III, a series of adult patients ' , Journal of Inherited Metabolic Disease , vol. 41 , no. 5 , pp. 839-848 . https://doi.org/10.1007/s10545-018-0186-zTest

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1007/s10545-018-0186-zTest
https://pure.eur.nl/en/publications/aff4e5e7-638d-42ed-9afe-d3bba7e2a5f9Test
https://pure.eur.nl/ws/files/47963681/REPUB_106120-OA.pdfTest
http://hdl.handle.net/1765/106120Test