المؤلفون: Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. van der Knaap

المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Innovative trial design, Trial protocol, Core protocol, Vanishing white matter, Leukodystrophy, Orphan disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/8f4af726592c4d9fb60b72f567204c44

المؤلفون: Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Lysosomal storage diseases, Gaucher disease type 1, Fabry disease, Mucopolysaccharidosis type III, Gene therapy, Qualitative research, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114

المؤلفون: Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Registries, Orphan drugs, Real world data, Disease registries, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01519-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/afbdd2fe69ca4f0281f87c332c225ba6

المؤلفون: Daphne H. Schoenmakers, Prisca S. Leferink, Adeline Vanderver, Joshua L. Bonkowsky, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Brent L. Fogel, Nicole I. Wolf, Donna Skwirut, Allyson Buck, Brett Holberg, Elise F. Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter Bokhoven, Menno D. Stellingwerff, Johannes Berkhof, Marjo S. Knaap

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::69f30c2e7a4d2f5a844caa3581f1d468
https://doi.org/10.21203/rs.3.rs-2446334/v1

المؤلفون: Saco J. de Visser, Robin H. Lachmann, Vincent van der Wel, Mirjam Langeveld, Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Hanka Dekker

المساهمون: Endocrinology, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 15(1):235. BioMed Central

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Real world data, Drug Industry, Orphan Drug Production, Pharmacology toxicology, lcsh:Medicine, Disease registries, Disease, 030105 genetics & heredity, Orphan diseases, Orphan drug, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, medicine, Humans, Orphan drugs, Pharmacology (medical), Registries, Position Statement, Public funding, Drug Approval, Genetics (clinical), health care economics and organizations, Pharmaceutical industry, Marketing, Health professionals, business.industry, lcsh:R, General Medicine, Family medicine, Business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7c9258bbef2c1853c56548cee5a37f3
http://link.springer.com/article/10.1186/s13023-020-01519-0

المؤلفون: Nicola Longo, Joy Lee, Nanda M. Verhoeven-Duif, Levinus A. Bok, Arushi Gahlot Saini, R. Lilje, Hanka Dekker, Erle Kristensen, Saikat Santra, Peter E. Clayton, Damayanti Rusli Sjarif, Flavia Balbo Piazzon, Clara D.M. van Karnebeek, Johan L.K. Van Hove, Frits A. Wijburg, Monica Boyer, Pasquale Striano, Barbara Plecko, Anibh M. Das, Emma Footitt, Daniela Buhas, Sylvia Stockler-Ipsiroglu, François Feillet, Hans Hartmann, Philippa B. Mills, Laura A. Tseng, François Boemer, Jose E. Abdenur, Athanasios Evangeliou, Curtis R. Coughlin, Catherine Ashmore, Sameer M. Zuberi, Phillip L. Pearl, Roelineke J. Lunsing, Sidney M. Gospe, Majdi Kara, Maria T. Papadopoulou

المساهمون: Graduate School, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, ARD - Amsterdam Reproduction and Development

المصدر: Journal of inherited metabolic disease, 44(1), 178-192. Springer Netherlands
Journal of Inherited Metabolic Disease, 44(1), 178-192. SPRINGER

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, dependent epilepsy, Consensus, FEATURES, International Cooperation, pyridoxine-responsive seizures, ACID-RESPONSIVE SEIZURES, Arginine, responsive seizures, Epilepsy, Intellectual disability, Genetics, medicine, Seizure control, EPIDEMIOLOGY, Humans, ALDH7A1, pyridoxine‐, Pyridoxine-dependent epilepsy, Genetics (clinical), ARGININE SUPPLEMENTATION, business.industry, Lysine, ANTIQUITIN DEFICIENCY, Pyridoxine, pyridoxine-dependent epilepsy, PIPECOLIC ACID, DIETARY LYSINE RESTRICTION, alpha aminoadipic semialdehyde, Aldehyde Dehydrogenase, medicine.disease, Dehydrogenase deficiency, HOMOZYGOUS MISSENSE MUTATION, consensus guidelines, MOLYBDENUM COFACTOR DEFICIENCY, Dietary Supplements, sense organs, Aminoadipic Semialdehyde, business, Lysine transport, medicine.drug

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd4287a08df287ea8d4a1d7feccc9924
http://hdl.handle.net/11567/1040301

المؤلفون: Marjo S. van der Knaap, Joshua L. Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I. Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter van de Ven, Prisca S. Leferink

المصدر: van der Knaap, M S, Bonkowsky, J L, Vanderver, A, Schiffmann, R, Krägeloh-Mann, I, Bertini, E, Bernard, G, Fatemi, S A, Wolf, N I, Saunier-Vivar, E, Rauner, R, Dekker, H, van Bokhoven, P, van de Ven, P & Leferink, P S 2022, ' Therapy Trial Design in Vanishing White Matter An Expert Consortium Opinion ', Neurology: Genetics, vol. 8, no. 2, e657 . https://doi.org/10.1212/NXG.0000000000000657
Neurology: Genetics
article-version (Version of Record) 3
van der Knaap, M S, Bonkowsky, J L, Vanderver, A, Schiffmann, R, Krägeloh-Mann, I, Bertini, E, Bernard, G, Fatemi, S A, Wolf, N I, Saunier-Vivar, E, Rauner, R, Dekker, H, van Bokhoven, P, van de Ven, P & Leferink, P S 2022, ' Therapy Trial Design in Vanishing White Matter An Expert Consortium Opinion ', Neurology: Genetics, vol. 8, no. 2, e657, pp. 1-15 . https://doi.org/10.1212/NXG.0000000000000657

مصطلحات موضوعية: Views & Reviews, SDG 3 - Good Health and Well-being, Neurology (clinical), Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90d11b203cd1067a817ae69be7d4be8
https://doi.org/10.1212/nxg.0000000000000657

المؤلفون: Hanka Dekker

المصدر: Bijblijven. 32:583-592

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 0302 clinical medicine, media_common.quotation_subject, General Medicine, Art, 030105 genetics & heredity, Theology, 030217 neurology & neurosurgery, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19b3663eef248dad3573f2b289011948
https://doi.org/10.1007/s12414-016-0163-0

المؤلفون: Heather Band, Loïc Favennec, Philip Wood, Christina Olsen, Oriol de Solà Morales, Mondher Toumi, Keith Tolley, Raquel Castro, Martin Laimer, Ulf Persson, Anne-Grethe Lauridsen, Hanka Dekker, Amy Hunter, Helmut Hintner, Nabarun Dasgupta, Mohanad Fors, James R. Bonham, Katherine I. Miller Needleman, Marinda J. A. Hammann, Christa van Kan, Simon Day, Gumei Liu, Vesna Stojmirova Aleksovska, Thomas J. Croce, Barbara Bori, Antonio Asero, Marije C. Effing-Boele, Anja Diem, Birthe B Holm, Réjean Hébert, Andrea West, Peter Kolominsky-Rabas, Deborah A. Marshall, Silvana Venturella, Harry Telser, Martin J. Whitaker, Jonas Fransson, Michael Schlander, Vincenzo Papa, Carrie E. Pierce, Gayatri R. Rao, Maarten J. Postma, Steven Simoens, Amy Simpson, Patricia Durão, Daniel Lewi, Melissa Jordan, Stephanie J. Nielsen, Michela Salvador, Jeff Richardson, Søren Holm, Alan Krol, Debra Y. Lewis, Erik Nord, Silvio Garattini, Joanne Higgs, Emilie Prazakova, Ritchie Head

المصدر: Orphanet Journal of Rare Diseases. 11

مصطلحات موضوعية: 0301 basic medicine, education.field_of_study, Task force, Population, General Medicine, 3. Good health, Integrated care, Patient identification, Orphan drug, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pharmacology (medical), Social media, Sociology, Religious studies, education, Administration (government), 030217 neurology & neurosurgery, Genetics (clinical), Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::579e3d4992475c1b375494c9e19b24ce
https://doi.org/10.1186/s13023-016-0515-y

المؤلفون: Shamima Rahman, Bwee Tien Poll-The, Rob Hagendijk, Matthias R. Baumgartner, Eileen P. Treacy, Marc Engelen, Martijn C. G. J. Brouwers, Dries Dobbelaere, Robin H. Lachmann, Ronald J.A. Wanders, Marike C. Groenendijk, Annet M. Bosch, Bruno Bembi, Eva Morava, Ute Spiekerkoetter, Janneke G. Langendonk, M. Estela Rubio-Gozalbo, Hanka Dekker, Gabor E. Linthorst, Carla E. M. Hollak, Nadia Belmatoug, Marieke Biegstraaten, Johannes Zschocke, Mirjam Langeveld

المساهمون: Transnational Configurations, Conflict and Governance (AISSR, FMG), Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Paediatric Metabolic Diseases, Neurology, Paediatric Neurology, Laboratory Genetic Metabolic Diseases, Interne Geneeskunde, MUMC+: MA Endocrinologie (9), Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, University of Zurich, Hollak, Carla E M, Internal Medicine

المصدر: Orphanet Journal of Rare Diseases, 11:7. BioMed Central
Orphanet journal of rare diseases, 11(1). BioMed Central
Orphanet Journal of Rare Diseases, 11:7. BioMed Central Ltd
Orphanet Journal of Rare Diseases, 11:7. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 11, 1, pp. 7
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11, 7

مصطلحات موضوعية: 2716 Genetics (clinical), Undue influence, Health Personnel, media_common.quotation_subject, Pooling, 610 Medicine & health, European Reference Network, Patient Advocacy, 030204 cardiovascular system & hematology, Orphan diseases, Community Networks, Patient advocacy, Orphan drug, 03 medical and health sciences, 0302 clinical medicine, Humans, 2736 Pharmacology (medical), Industry, Genetics(clinical), Pharmacology (medical), 030212 general & internal medicine, Position Statement, Genetics (clinical), media_common, Medicine(all), Health professionals, business.industry, Environmental resource management, Conflict of interest, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Public relations, Quarter (United States coin), Independence, Rare diseases, Europe, 10036 Medical Clinic, business

وصف الملف: Electronic; application/pdf; ZORA132824.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44e77ca645dbf37aeab08964acb61f95
https://doi.org/10.1186/s13023-016-0383-5