المؤلفون: Giugliani, Roberto, Guelbert, Norberto, Hennermann, Julia, Ikezoe, Takayuki, Lidove, Olivier, Mabe, Paulina, Mengel, Eugen, Scarpa, Maurizio, Senates, Ebubekir, Tchan, Michel, Villarrubia, Jesus, Thurberg, Beth, Yarramaneni, Abhimanyu, Armstrong, Nicole, Kim, Yong, Kumar, Monica, Wasserstein, Melissa, Lachmann, Robin, Hollak, Carla, Barbato, Antonio, Gallagher, Renata

المصدر: Orphanet Journal of Rare Diseases. 18(1)

مصطلحات موضوعية: Acid sphingomyelinase deficiency, Dose escalation, Lung diffusing capacity, Niemann–Pick type A/B, Niemann–Pick type B, Organomegaly, Recombinant human acid sphingomyelinase, Adult, Humans, Sphingomyelin Phosphodiesterase, Niemann-Pick Disease, Type A, Niemann-Pick Diseases, Recombinant Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tx7861m
https://escholarship.org/content/qt3tx7861m/qt3tx7861m.pdf

المؤلفون: Eleonore M. Corazolla, Eline C. B. Eskes, Jorien Veldwijk, 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 19, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Lysosomal storage diseases, Gaucher disease type 1, Fabry disease, Mucopolysaccharidosis type III A/B, Gene therapy, Probabilistic threshold technique, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/6aa6f1ea34a14fd6949ec163980388bd

المؤلفون: Femke C.C. Klouwer, Stefan D. Roosendaal, Carla E. M. Hollak, Mirjam Langeveld, Bwee Tien Poll-The, Arlette J. van Sorge, Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: AMACR, Alpha-methylacyl-CoA racemase, Peroxisomal disorder, Phenotype, Bile acid synthesis, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/06bcf3f754ad448a8d1311bfc4c466de

المؤلفون: Eline C. B. Eskes, Laura vanDussen, Johannes M. F. G. Aerts, Martijn J. C. van derLienden, Mario Maas, Erik M. Akkerman, André B. P. vanKuilenburg, Barbara Sjouke, Carla E. M. Hollak

المصدر: JIMD Reports, Vol 65, Iss 5, Pp 330-340 (2024)

مصطلحات موضوعية: acid sphingomyelinase deficiency, biomarkers, Gaucher disease, sphingolipids, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/6e02d9fd1f0b494caa1a38c1774c7e0e

المؤلفون: Marc J. Sirks, Yousif Subhi, Noa Rosenberg, Carla E. M. Hollak, Camiel J. F. Boon, Roselie M. H. Diederen, Suzanne Yzer, Jeannette Ossewaarde-van Norel, Yvonne de Jong-Hesse, Reinier O. Schlingemann, Rob J. Moss, Elon H. C. van Dijk

المصدر: Ophthalmology and Therapy, Vol 13, Iss 7, Pp 1821-1831 (2024)

مصطلحات موضوعية: Verteporfin, Photodynamic therapy, Central serous chorioretinopathy, Choroidal hemangioma, Polypoidal choroidal vasculopathy, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2193-8245; https://doaj.org/toc/2193-6528

URL الوصول: https://doaj.org/article/60faf01a850a4f1aaaa101568053ffbe

المؤلفون: Merel E. Hermans, Gert J. Geurtsen, Carla E. M. Hollak, Annet M. Bosch

المصدر: JIMD Reports, Vol 65, Iss 2, Pp 110-115 (2024)

مصطلحات موضوعية: cognitive change, cognitive functioning, galactosemia, GALT‐deficiency, neuropsychology, progression, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/b62be939fa8541ff82ff87261d76a400

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

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

المؤلفون: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Nicole M. Armstrong, Yong Kim, Monica Kumar

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Recombinant human acid sphingomyelinase, Dose escalation, Organomegaly, Lung diffusing capacity, Acid sphingomyelinase deficiency, Niemann–Pick type B, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/7737861ecbf54c38965ac8ebac64bc3c

المؤلفون: Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J, Hollak Carla EM, Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J, Bosch Annet M

المصدر: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 37 (2013)

مصطلحات موضوعية: Phenylketonuria, PKU, Clinical pathway, Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/8/1/37; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3e9eb2921999466e9d46feaacc250121

المؤلفون: Cox Timothy M, Amato Dominick, Hollak Carla EM, Luzy Cecile, Silkey Mariabeth, Giorgino Ruben, Steiner Robert D

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 102 (2012)

مصطلحات موضوعية: Gaucher disease, Miglustat, Enzyme therapy, Maintenance, Efficacy, Safety, Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/7/1/102; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/acf9de7c91854325b3925bc04a57eb54

المؤلفون: de Ru Minke H, Teunissen Quirine GA, van der Lee Johanna H, Beck Michael, Bodamer Olaf A, Clarke Lorne A, Hollak Carla E, Lin Shuan-Pei, Rojas Maria-Verónica, Pastores Gregory M, Raiman Julian A, Scarpa Maurizio, Treacy Eileen P, Tylki-Szymanska Anna, Wraith J Edmond, Zeman Jiri, Wijburg Frits A

المصدر: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 22 (2012)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Iduronidase, Classification, Consensus, Phenotype, Hematopoietic stem cell transplantation, Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/7/1/22; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a2524b6560c6437e8c0c754a1378af8c

المؤلفون: Hollak Carla EM, Poorthuis Ben JHM, Overkleeft Hermen S, Mirzaian Mina, Kuiper Symen, Aerts Johannes MFG, Rombach Saskia M, Smid Bouwien E, Groener Johanna EM, Linthorst Gabor E

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 69 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/69; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6f6449ab650d4d69af17927b89e6d9a2

المؤلفون: Jonkers Cora F, ter Horst Nienke M, van der Herberg-van de Wetering N Ada P, Boelen Carolien CA, Hollak Carla EM, ten Hoedt Amber E, Wijburg Frits A, Bosch Annet M

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 48 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/48; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a205ede2f66a4a419001963b4b5ec033

المؤلفون: Aymé Ségolène, Aerts Johannes MFG, Hollak Carla EM, Manuel Jeremy

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 16 (2011)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/16; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/f1954468e3cb4413b67f6afe53866fc3

المؤلفون: Wijburg Frits A, Wieling Wouter, van Schaik Ivo N, Biegstraaten Marieke, Hollak Carla EM

المصدر: BMC Neurology, Vol 10, Iss 1, p 38 (2010)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2377/10/38; https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/3760dc81936a458dbe11b600668c22b5

المؤلفون: Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Classical galactosemia, GALT deficiency, HRQoL, PROMs, PROMIS, Psychosocial functioning, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1b8a6b840b9d4608bd5f0495820e0ce9

المؤلفون: Eskes, Eline C. B., van Dussen, Laura, Brands, Marion M. M. G., Vaz, Frédéric M., Aerts, Johannes M. F. G., van Kuilenburg, André B. P., Sjouke, Barbara, Hollak, Carla E. M.

المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1002/jimd.12789
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12789

المؤلفون: Yasmin Polak, Laura van Dussen, E. Marleen Kemper, Frédéric M. Vaz, Femke C. C. Klouwer, Marc Engelen, Carla E. M. Hollak

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Bile acid synthesis defects, Cholic acid, Toxic bile acid intermediates, Single enzyme defects, Zellweger spectrum disorders, Medicine

Relation: https://doi.org/10.1186/s13023-024-03449-7; https://doaj.org/toc/1750-1172; https://doaj.org/article/88c3b08dddea4762b48fa974ed80811f

الاتاحة: https://doi.org/10.1186/s13023-024-03449-7
https://doaj.org/article/88c3b08dddea4762b48fa974ed80811f

المؤلفون: Stolwijk, Nina N., Haberle, Johannes, Wagenmakers, Margreet A. E. M., Hollak, Carla E. M., Huidekoper, Hidde H., Bosch, Annet M.

المصدر: Stolwijk , N N , E-IMD MetabERN Working Grp Real-World Use Prod UCD Management , Haberle , J , Wagenmakers , M A E M , Hollak , C E M , Huidekoper , H H & Bosch , A M 2024 , ' Mapping challenges in the accessibility of treatment products for urea cycle disorders : A survey of European healthcare professionals ' , Journal of Inherited Metabolic Disease , vol. 48 , no. 1 , e12815 . https://doi.org/10.1002/jimd.12815

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/278200f0-44bc-43e0-b4d8-449e1d338090
https://doi.org/10.1002/jimd.12815
https://pure.eur.nl/ws/files/176810701/Mapping_challenges_in_the_accessibility_of_treatment_products_for_urea_cycle_disorders.pdf
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001368437000001&DestLinkType=FullRecord&DestApp=WOS_CPL

المؤلفون: Schoenmakers, Daphne H., Van Den Berg, Sibren, Timmers, Lonneke, Adang, Laura A., Bäumer, Tobias, Bosch, Annet, Van De Casteele, Marc, Datema, Mareen R., Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H.E., Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U., Van Den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J., Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, Van Der Knaap, Marjo S., Papadopoulou, Andri, Plueschke, Kelly, Van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F., Dos Santos Vieira, Bruna, Hollak, Carla E.M., Goettsch, Wim G., Wolf, Nicole I.

المصدر: Schoenmakers , D H , Van Den Berg , S , Timmers , L , Adang , L A , Bäumer , T , Bosch , A , Van De Casteele , M , Datema , M R , Dekker , H , Donnelly , C , Driessens , M H E , Graessner , H , Greger , V , Haddad , T , Höglinger , G U , Van Den Hout , H , Jonker , C , Langeveld , M , Lambert , L J , Neacy , E , Nieuwland , M , Klockgether , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/39d7653b-6120-42f1-b378-6ce8cb1ec156
https://doi.org/10.1212/WNL.0000000000209743
https://pure.eur.nl/ws/files/166167428/Framework_for_Multistakeholder_Patient_Registries_in_the_Field_of_Rare_Diseases.pdf
http://www.scopus.com/inward/record.url?scp=85202002716&partnerID=8YFLogxK