-
1دورية أكاديمية
المؤلفون: Lika, Aglina, Andrinopoulou, Eleni‐Rosalina, van der Beek, Nadine A. M. E., Rizopoulos, Dimitris, van der Ploeg, Ans T., Kruijshaar, Michelle E.
المساهمون: Sanofi Genzyme, ZonMw, Prinses Beatrix Spierfonds
المصدر: European Journal of Neurology ; volume 31, issue 5 ; ISSN 1351-5101 1468-1331
-
2دورية أكاديمية
المؤلفون: Mackenbach, Maarten J., Willemse, Eline A. J., van den Dorpel, Jan J. A., van der Beek, Nadine A. M. E., Díaz-Manera, Jordi, Rizopoulos, Dimitris, Teunissen, Charlotte, van der Ploeg, Ans T., van den Hout, Johanna M. P.
المصدر: Mackenbach , M J , Willemse , E A J , van den Dorpel , J J A , van der Beek , N A M E , Díaz-Manera , J , Rizopoulos , D , Teunissen , C , van der Ploeg , A T & van den Hout , J M P 2023 , ' Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease ' , Neurology , vol. 101 , no. 6 , pp. e594-e601 . https://doi.org/10.1212/WNL.0000000000207482Test
الإتاحة: https://doi.org/10.1212/WNL.0000000000207482Test
https://research.vumc.nl/en/publications/ba74e470-596c-4f81-885d-e24426dad478Test
http://www.scopus.com/inward/record.url?scp=85167475622&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Dimachkie, Mazen M, Kishnani, Priya S, Ivanescu, Cristina, Flore, Giulio, Gwaltney, Chad, van der Beek, Nadine A M E, Hamed, Alaa, An Haack, Kristina, Pollissard, Laurence, Baranowski, Eileen, Sparks, Susan E, DasMahapatra, Pronabesh
المصدر: Dimachkie , M M , Kishnani , P S , for COMET Study Group , Ivanescu , C , Flore , G , Gwaltney , C , van der Beek , N A M E , Hamed , A , An Haack , K , Pollissard , L , Baranowski , E , Sparks , S E & DasMahapatra , P 2023 , ' Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study ' , Neurology: Clinical Practice , vol. 13 , no. 5 , e200181 . https://doi.org/10.1212/CPJ.0000000000200181Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1212/CPJ.0000000000200181Test
https://pure.eur.nl/en/publications/acf2227e-d470-4b67-97a8-786a2c13f772Test
https://pure.eur.nl/ws/files/135176348/CPJ-2023-000039.pdfTest -
4دورية أكاديمية
المؤلفون: Lika, Aglina, Andrinopoulou, Eleni‐Rosalina, van der Beek, Nadine A. M. E., Rizopoulos, Dimitris, van der Ploeg, Ans T., Kruijshaar, Michelle E.
المساهمون: Amicus Therapeutics, Denali Therapeutics, Sanofi Genzyme, Spark Therapeutics, Prinses Beatrix Spierfonds
المصدر: Journal of Inherited Metabolic Disease ; volume 46, issue 4, page 595-604 ; ISSN 0141-8955 1573-2665
-
5دورية أكاديمية
المؤلفون: Ismailova, Gamida, Wagenmakers, Margreet A. E. M., Brusse, Esther, van der Ploeg, Ans T., Favejee, Marein M., van der Beek, Nadine A. M. E., van den Berg, Linda E. M.
المساهمون: Prinses Beatrix Spierfonds
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
6دورية أكاديمية
المؤلفون: Ditters, Imke A. M., van Kooten, Harmke A., van der Beek, Nadine A. M. E., Hardon, Jacqueline F., Ismailova, Gamida, Brusse, Esther, Kruijshaar, Michelle E., van der Ploeg, Ans T., van den Hout, Johanna M. P., Huidekoper, Hidde H.
المساهمون: ZonMw, Prinses Beatrix Spierfonds, TKI Life Sciences and Health, Sanofi
المصدر: BioDrugs ; volume 37, issue 5, page 685-698 ; ISSN 1173-8804 1179-190X
مصطلحات موضوعية: Pharmacology (medical), Pharmacology, General Medicine, Biotechnology
-
7دورية أكاديميةHome-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
المؤلفون: Ditters, Imke A. M., van der Beek, Nadine A. M. E., Brusse, Esther, van der Ploeg, Ans T., van den Hout, Johanna M. P., Huidekoper, Hidde H.
المساهمون: Prinses Beatrix Spierfonds, TKI Life Sciences & Health, ZonMw, Sanofi
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
-
8دورية أكاديمية
المؤلفون: Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, van Kooten, Harmke A, van der Beek, Nadine A M E, Brusse, Esther, de Bruijne, Marleen, Tiddens, Harm A W M, van der Ploeg, Ans T, van Doorn, Pieter A
المساهمون: Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gij, van Kooten, Harmke A, van der Beek, Nadine A M E, Brusse, Esther, de Bruijne, Marleen, Tiddens, Harm A W M, van der Ploeg, Ans T, van Doorn, Pieter A
مصطلحات موضوعية: Diaphragm, Enzyme replacement therapy, Glycogen storage disease type II, Magnetic resonance imaging, Respiration
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35829785; info:eu-repo/semantics/altIdentifier/wos/WOS:000824247300001; volume:32; issue:12; firstpage:8681; lastpage:8691; numberofpages:11; journal:EUROPEAN RADIOLOGY; https://hdl.handle.net/11584/368274Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134344067
-
9دورية أكاديمية
المؤلفون: van den Dorpel, Jan J. A., van der Vlugt, Willemijn M. C., Dremmen, Marjolein H. G., Muetzel, Ryan, van den Berg, Esther, Hest, Roos, de Kriek, Joni, Brusse, Esther, van Doorn, Pieter A., van der Ploeg, Ans T., van den Hout, Johanna M. P., van der Beek, Nadine A. M. E.
المصدر: van den Dorpel , J J A , van der Vlugt , W M C , Dremmen , M H G , Muetzel , R , van den Berg , E , Hest , R , de Kriek , J , Brusse , E , van Doorn , P A , van der Ploeg , A T , van den Hout , J M P & van der Beek , N A M E 2022 , ' Is the brain involved in patients with late-onset Pompe disease? ' , Journal of Inherited Metabolic Disease , vol. 45 , no. ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1002/jimd.12469Test
https://pure.eur.nl/en/publications/bf45a3fc-29f2-4076-9d60-093629b9ef41Test
https://pure.eur.nl/ws/files/69093261/J_of_Inher_Metab_Disea_2021_Dorpel_Is_the_brain_involved_in_patients_with_late_onset_Pompe_disease.pdfTest
http://www.scopus.com/inward/record.url?scp=85123470913&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Harlaar, Laurike, Ciet, Pierluigi, van Tulder, Gijs, Brusse, Esther, Timmermans, Remco G M, Janssen, Wim G M, de Bruijne, Marleen, van der Ploeg, Ans T, Tiddens, Harm A W M, van Doorn, Pieter A, van der Beek, Nadine A M E
المصدر: Harlaar , L , Ciet , P , van Tulder , G , Brusse , E , Timmermans , R G M , Janssen , W G M , de Bruijne , M , van der Ploeg , A T , Tiddens , H A W M , van Doorn , P A & van der Beek , N A M E 2022 , ' Diaphragmatic dysfunction in neuromuscular disease, an MRI study ' , Neuromuscular Disorders , vol. 32 , no. 1 , pp. 15-24 . https://doi.org/10.1016/j.nmd.2021.11.001Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.nmd.2021.11.001Test
https://curis.ku.dk/portal/da/publications/diaphragmatic-dysfunction-in-neuromuscular-disease-an-mri-studyTest(b11ebe7a-04ce-4992-9921-b3673a0de007).html
https://curis.ku.dk/ws/files/297406507/Diaphragmatic_dysfunction_in_neuromuscular_disease_an_MRI_study.pdfTest
