المؤلفون: van Kooten, HA, Horton, MC, Wenninger, S, Babacic, H, Schoser, B, Lefeuvre, C, Taouagh, N, Laforet, P, Segovia, S, Diaz-Manera, J, Claeys, KG, Mongini, T, Musumeci, O, Toscano, A, Hundsberger, T, Brusse, E, van Doorn, PA, van der Ploeg, AT, van der Beek, NAME

المصدر: European journal of neurology. :e16397

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:159396931

المؤلفون: van den Dorpel, JJA, Mackenbach, MJ, Dremmen, MHG, van der Vlugt, WMC, Rizopoulos, D, van Doorn, PA, van der Ploeg, AT, Muetzel, R, van der Beek, NAME, van den Hout, JMP

المصدر: van den Dorpel , JJA , Mackenbach , MJ , Dremmen , MHG , van der Vlugt , WMC , Rizopoulos , D , van Doorn , PA , van der Ploeg , AT , Muetzel , R , van der Beek , NAME & van den Hout , JMP 2024 , ' Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning ' , Journal of Inherited Metabolic Disease , vol. 47 , no. 4 , pp. 716-730 . https://doi.org/10.1002/jimd.12736

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/53f9f715-c03a-4e20-b22b-db42ee470989
https://doi.org/10.1002/jimd.12736
https://pure.eur.nl/ws/files/146010659/J_of_Inher_Metab_Disea_-_2024_-_Dorpel_-_Long_term_survival_in_patients_with_classic_infantile_Pompe_disease_reveals_a.pdf
http://www.scopus.com/inward/record.url?scp=85189981280&partnerID=8YFLogxK

المؤلفون: Meijden, Chris, Kruijshaar, Michelle, Harlaar, Laurike, Rizopoulos, Dimitris, van der Beek, NAME, van der Ploeg, Ans

المصدر: Meijden , C , Kruijshaar , M , Harlaar , L , Rizopoulos , D , van der Beek , NAME & van der Ploeg , A 2018 , ' Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapyKeywords ' , Journal of Inherited Metabolic Disease , vol. 41 , no. 6 , pp. 1205-1214 . https://doi.org/10.1007/s10545-018-0166-3

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/f140e204-9306-427a-a4d0-0d8e2ae6962c
https://doi.org/10.1007/s10545-018-0166-3
https://pure.eur.nl/ws/files/48164697/REPUB_105411-OA.pdf
http://hdl.handle.net/1765/105411

المؤلفون: Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien Y-H, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B, Behin A, Boentert M, Carvalho G, Chahin N, Charrow J, Deegan P, Durmus Tekce H, Duval F, Genge A, Gutmann L, Henderson RD, Hennermann JB, Hiwot T, Hughes D, Karaa A, Karam C, Kautzky-Willer A, Komaki H, Laforet P, Longo N, Malinova V, Mare R, Maxit C, Mengel E, Moggio MG, Molnar MJ, Mongini TE, Nadaj-Pakleza A, Nascimento Osorio A, Noury J-B, Oliveira ASB, Parman Y, Pena L, Remiche G, Sciacco M, Shieh PB, Smith C, Stulnig T, Taithe F, Tard C, Tarnopolsky M, Vorgerd M, Whitley C, Young P, Alonso-Perez J, Altemus P, Aube-Nathier A-C, Avelar JB, Bailey C, Bekircan-Kurt CE, Billy J, Boschi S, Brown KE, Carrera Garcia L, Chase L, Cirne H, Danjoux L, Davion J-B, DeArmey S, Fedotova E, Gandolfo E, Grosz Z, Guellec D, Guettsches A-K, Guglieri M, Hatcher E, Helms S, Hufgard-Leitner M, Klyushnikov SA, Langton J, Linkova L, Mavroudakis N, Mazurova S, Mori M, Muller-Miny L, Musumeci O, Nance CS, Natera-de Benito D, Neel R, Niizawa GA, Noll L, Ortega E, Pasnoor M, Pautot V, Potulska-Chromik A, Pugliese A, Questienne C, Ramos Lopes M, Reyes-Leiva D, Riedl M, Rugiero MF, Salort-Campana E, Sgobbi Souza PV, Sole G, Solera L, Souto Lopes S, Specht S, Statland J, Swenson A, Tan CY, Tizon S, van der Beek NAME, van Kooten HA, Wencel M, Wenninger S, Zagnoli F

المصدر: The Lancet Neurology, December 2021

Relation: https://eprints.ncl.ac.uk/278594

الاتاحة: https://eprints.ncl.ac.uk/278594

المؤلفون: Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, de Bruijne M, Tiddens HAWM, van Doorn PA.

المساهمون: Harlaar, L, Ciet, P, van der Ploeg, At, Brusse, E, van der Beek, Name, Wielopolski, Pa, de Bruijne, M, Tiddens, Hawm, van Doorn, Pa.

Relation: info:eu-repo/semantics/altIdentifier/pmid/29398294; info:eu-repo/semantics/altIdentifier/wos/WOS:000430763800008; volume:28; issue:3; firstpage:246; lastpage:256; numberofpages:11; journal:NEUROMUSCULAR DISORDERS; http://hdl.handle.net/11584/311088; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85041580012

الاتاحة: http://hdl.handle.net/11584/311088
https://doi.org/10.1016/j.nmd.2017.11.010