المؤلفون: Lenders, Malte, Brand, Eva

المصدر: http://lobid.org/resources/99370676914906441Test#!, 81(17):1969-1981.

مصطلحات موضوعية: Pharmacology/Toxicology, Fabry Disease/physiopathology [MeSH], alpha-Galactosidase/adverse effects [MeSH], Enzyme Replacement Therapy/adverse effects [MeSH], Humans [MeSH], alpha-Galactosidase/therapeutic use [MeSH], Enzyme Replacement Therapy/methods [MeSH], Review Article, Trihexosylceramides/metabolism [MeSH], Isoenzymes/adverse effects [MeSH], Risk Factors [MeSH], Lysosomal Storage Diseases/pathology [MeSH], Injection Site Reaction [MeSH], Recombinant Proteins/adverse effects [MeSH], Recombinant Proteins/therapeutic use [MeSH], Antibodies, Neutralizing/immunology [MeSH], Antibody Formation [MeSH], Male [MeSH], Fabry Disease/drug therapy [MeSH], Isoenzymes/therapeutic use [MeSH], Internal Medicine, Pharmacotherapy

العلاقة: https://repository.publisso.de/resource/frl:6465085Test; https://doi.org/10.1007/s40265-021-01621-yTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602155Test/

الإتاحة: https://doi.org/10.1007/s40265-021-01621-yTest
https://repository.publisso.de/resource/frl:6465085Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602155Test/

المساهمون: Jordi Diaz-Manera, Priya S Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub, Antonio Toscano, Ans T van der Ploeg, Kenneth I Berger, Paula R Clemens, Yin-Hsiu Chien, John W Day, Sergey Illarioshkin, Mark Roberts, Shahram Attarian, Joao Lindolfo Borges, Francoise Bouhour, Young Chul Choi, Sevim Erdem-Ozdamar, Ozlem Goker-Alpan, Anna Kostera-Pruszczyk, Kristina An Haack, Christopher Hug, Olivier Huynh-Ba, Judith Johnson, Nathan Thibault, Tianyue Zhou, Mazen M Dimachkie, Benedikt Schoser, COMET Investigator Group, Choi, Young Chul

مصطلحات موضوعية: Child, Preschool, Double-Blind Method, Enzyme Replacement Therapy / adverse effects, Enzyme Replacement Therapy / methods, Glycogen Storage Disease Type II* / drug therapy, Humans, Treatment Outcome, Walking, alpha-Glucosidases* / adverse effects

العلاقة: LANCET NEUROLOGY; J02153; OAK-2022-08774; https://ir.ymlib.yonsei.ac.kr/handle/22282913/192383Test; https://www.sciencedirect.com/science/article/pii/S1474442221002416Test; T9992021100; LANCET NEUROLOGY, Vol.20(12) : 1012-1026, 2021-12

الإتاحة: https://doi.org/10.1016/S1474-4422Test(21)00241-6
https://ir.ymlib.yonsei.ac.kr/handle/22282913/192383Test
https://www.sciencedirect.com/science/article/pii/S1474442221002416Test

المؤلفون: McGrath, Orlaith, Sornalingam, Krishanthy, Aslam, Tariq, Ashworth, Jane

المصدر: McGrath , O , Sornalingam , K , Aslam , T & Ashworth , J 2023 , ' Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis ' , Cornea , vol. 42 , no. 8 , pp. 992-999 . https://doi.org/10.1097/ICO.0000000000003214Test

مصطلحات موضوعية: Humans, Prospective Studies, Mucopolysaccharidoses/complications, Corneal Opacity/diagnosis, Corneal Diseases/diagnosis, Mucopolysaccharidosis I/diagnosis, Enzyme Replacement Therapy/methods, cornea, corneal clouding, mucopolysaccharidosis

العلاقة: https://research.manchester.ac.uk/en/publications/ef589720-fbb3-4eb1-99b7-48f8be8bb0f2Test

الإتاحة: https://doi.org/10.1097/ICO.0000000000003214Test
https://research.manchester.ac.uk/en/publications/ef589720-fbb3-4eb1-99b7-48f8be8bb0f2Test
http://www.scopus.com/inward/record.url?scp=85164234571&partnerID=8YFLogxKTest
https://www.mendeley.com/catalogue/5d2b5896-5a51-3c8d-9c06-b4078cfcb47bTest/

المؤلفون: Ebbink, Berendine J, Poelman, Esther, Aarsen, Femke K, Plug, Iris, Régal, Luc, Muentjes, Carsten, van der Beek, Nadine A M E, Lequin, Maarten H, van der Ploeg, Ans T, van den Hout, Johanna M P

المساهمون: MS Radiologie, Circulatory Health

مصطلحات موضوعية: Adolescent, Age Factors, Brain/diagnostic imaging, Child, Preschool, Cognition Disorders/etiology, Cohort Studies, Disease Progression, Enzyme Replacement Therapy/methods, Female, Glycogen Storage Disease Type II/complications, Humans, Image Processing, Computer-Assisted, Infant, Intelligence/physiology, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Ventilation/methods, Clinical Neurology, Developmental Neuroscience, Pediatrics, Perinatology, and Child Health, Research Support, Non-U.S. Gov't, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/365404Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/365404Test

المؤلفون: Monney, P., Qanadli, S.D., Hajdu, S., Tran, C., Schwitter, J., Dormond, O., Barbey, F.

المصدر: Swiss medical weekly, vol. 147, pp. w14517

مصطلحات موضوعية: Adult, Aorta/diagnostic imaging, Aorta/pathology, Aortic Aneurysm/pathology, Dilatation, Disease Progression, Enzyme Replacement Therapy/methods, Fabry Disease/complications, Fabry Disease/genetics, Female, Humans, Longitudinal Studies, Male, Prospective Studies, Risk Factors, Sex Factors

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29120015; info:eu-repo/semantics/altIdentifier/eissn/1424-3997; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_07EEEE6624BD8; https://serval.unil.ch/notice/serval:BIB_07EEEE6624BDTest; urn:issn:0036-7672; https://serval.unil.ch/resource/serval:BIB_07EEEE6624BD.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_07EEEE6624BD8Test

الإتاحة: https://doi.org/10.4414/smw.2017.14517Test
https://serval.unil.ch/notice/serval:BIB_07EEEE6624BDTest
https://serval.unil.ch/resource/serval:BIB_07EEEE6624BD.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_07EEEE6624BD8Test

المؤلفون: Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe

المصدر: Orphanet journal of rare diseases, London : BioMed Central Ltd., 2022, vol. 17, no. 1, art. no. 136, p. 1-16

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Mucopolysaccharidosis IV / drug therapy, Mucopolysaccharidoses / therapy, Mucopolysaccharidosis IV, nutritional and metabolic diseases, Mucopolysaccharidoses / drug therapy, General Medicine, Mucopolysaccharidoses, Mucopolysaccharidosis II / drug therapy, Enzyme replacement therapy, Morquio A syndrome, Southern and Eastern European countries, Treatment accessibility, Quality of Life, Humans, enzyme replacement therapy, treatment accessibility, Enzyme Replacement Therapy, Pharmacology (medical), Enzyme Replacement Therapy / methods, Genetics (clinical), Mucopolysaccharidosis II

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56a98f85941b3f0f57297b97c5a7c7f4Test
https://doi.org/10.1186/s13023-022-02285-xTest

المؤلفون: Markati, Theodora, Duis, Jessica, Servais, Laurent

المصدر: Expert Opinion on Investigational Drugs, 30 (7), 709-720 (2021-07)

مصطلحات موضوعية: Angelman Syndrome/genetics/physiopathology/therapy, Animals, Enzyme Replacement Therapy/methods, Genetic Therapy/methods, Humans, Ubiquitin-Protein Ligases/genetics, Adeno-associated virus, angelman syndrome, antisense oligonucleotide, cell therapy, crispr-cas9, gene therapy, genomic imprinting, ube3a, ube3a-ats, zinc fingers, Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

العلاقة: urn:issn:1354-3784; urn:issn:1744-7658

الوصول الحر: https://orbi.uliege.be/handle/2268/268486Test

المؤلفون: Pierre Monney, Juerg Schwitter, Salah D. Qanadli, Frédéric Barbey, Christel Tran, Steven D. Hajdu, Olivier Dormond

المصدر: Swiss medical weekly, vol. 147, pp. w14517

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Expansion rate, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Sex Factors, Risk Factors, medicine.artery, Internal medicine, Ascending aorta, medicine, Humans, Enzyme Replacement Therapy, Longitudinal Studies, Prospective Studies, Prospective cohort study, Aorta, medicine.diagnostic_test, business.industry, Significant difference, Magnetic resonance imaging, General Medicine, Enzyme replacement therapy, medicine.disease, Fabry disease, Dilatation, Aortic Aneurysm, Aorta/diagnostic imaging, Aorta/pathology, Aortic Aneurysm/pathology, Disease Progression, Enzyme Replacement Therapy/methods, Fabry Disease/complications, Fabry Disease/genetics, Female, Cardiology, Fabry Disease, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37e48109fd806e42073300959db37b23Test
https://pubmed.ncbi.nlm.nih.gov/29120015Test

المؤلفون: Silva, Edina Mariko Koga da UNIFESP, Strufaldi, Maria Wany Louzada UNIFESP, Andriolo, Regis Bruni, Silva, Laercio Antonio da UNIFESP

مصطلحات موضوعية: Drug Administration Schedule, Enzyme Replacement Therapy [methods], Iduronate Sulfatase [administration & Dosage] Mucopolysaccharidosis Ii [drug Therapy], Randomized Controlled Trials As Topic, Rare Diseases [drug Therapy, Enzymology], HumansI/Ii Clinical-Trial, Outcome Survey Hos, Phase-I/Ii, Mps-Ii, Storage Disorders, Metaanalyses, Experience, Diagnosis, Children, Younger

وصف الملف: CD008185; application/pdf

العلاقة: Cochrane Database Of Systematic Reviews; https://dx.doi.org/10.1002/14651858.CD008185.pub4Test; Cochrane Database Of Systematic Reviews. Hoboken, n. 2, p. CD008185, 2016.; https://repositorio.unifesp.br/handle/11600/49548Test; WOS000373285000036.pdf; WOS:000373285000036

الإتاحة: https://doi.org/10.1002/14651858.CD008185.pub4Test
https://repositorio.unifesp.br/handle/11600/49548Test

المؤلفون: Lau, A. A., Hopwood, J. J., Kremer, E. J., Hemsley, K. M.

المساهمون: Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: Adenoviruses, Canine/*genetics/immunology Animals Animals, Newborn Antibodies, Viral/analysis Enzyme Replacement Therapy/*methods Gene Transfer Techniques Genetic Vectors Hydrolases/*therapeutic use Mice Mucopolysaccharidosis III/genetics/*therapy, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

العلاقة: hal-02193616; https://hal.science/hal-02193616Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2010.02.006Test
https://hal.science/hal-02193616Test