المؤلفون: P. Vanherpe, S. Fieuws, A. D’Hondt, C. Bleyenheuft, P. Demaerel, J. De Bleecker, P. Van den Bergh, J. Baets, G. Remiche, K. Verhoeven, S. Delstanche, M. Toussaint, B. Buyse, P. Van Damme, C. E. Depuydt, K. G. Claeys

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Glycogen storage disease type 2, GSD2, Belgian cohort, ActivLim, 6MWD, Respiratory, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01353-4Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/0acfac72ef3341d8b3b275bae95159b9Test

المؤلفون: A, Thibaut, C, Beaudart, M, Quinet, O, Bouquiaux, S, Delstanche, I, Lievens, D, Grosjean, I, Ortmans, J F, Kaux, C, Halleux

المصدر: Revue medicale de Liege. 77(2)

مصطلحات موضوعية: Death, Cognition, Amyotrophic Lateral Sclerosis, Palliative Care, Quality of Life, Humans

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4ce1bd8780747150e88c056d651c90b1Test
https://pubmed.ncbi.nlm.nih.gov/35143130Test

المؤلفون: M. Poleur, M. Annoussamy, L. Clavel, L. Buscemi, S. Delstanche, D. Eggenspieler, A. Maertens de Noordhout, O. Bouquiaux, I. Lievens, L. Servais

المصدر: Neuromuscular Disorders. 32:S136

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::278c6af320567de76d6fa38cd8d701a1Test
https://doi.org/10.1016/j.nmd.2022.07.390Test

المؤلفون: T. Dangouloff, P. Thokala, A. Daron, S. Delstanche, L. Servais, M. Hiligsmann

المصدر: Neuromuscular Disorders. 32:S60

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::93ec6cd3b3781cf5676e4bf9a9d8f025Test
https://doi.org/10.1016/j.nmd.2022.07.080Test

المؤلفون: C. Bernar, C. Dubois, S. Delstanche, M. Duclos, L. Medard, L. Buscemi, L. Servais

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 2019-20 coronavirus outbreak, Neurology, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Pediatrics, Perinatology and Child Health, Social impact, Medicine, Neurology (clinical), business, Virology, Genetics (clinical), Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12675f158b9e54849b699e1b33efa930Test
http://europepmc.org/articles/PMC8449709Test

المؤلفون: Christophe E. Depuydt, P. Van den Bergh, Kristien Verhoeven, Steffen Fieuws, Philippe Demaerel, Jonathan Baets, J. De Bleecker, Kurt Claeys, Bertien Buyse, S. Delstanche, G. Remiche, Ann D'Hondt, P. Van Damme, C. Bleyenheuft, Michel Toussaint, P. Vanherpe

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Orphanet journal of rare diseases, 15 (1
Orphanet journal of rare diseases
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Vital capacity, medicine.medical_specialty, Delayed Diagnosis, Supine position, 6MWD, lcsh:Medicine, Late onset, GUIDELINES, ENZYME REPLACEMENT THERAPY, GSD2, FEV1/FVC ratio, Belgium, Internal medicine, Outcome Assessment, Health Care, Medicine and Health Sciences, medicine, Humans, Enzyme Replacement Therapy, Pharmacology (medical), Belgian cohort, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Research, lcsh:R, nutritional and metabolic diseases, Muscle weakness, alpha-Glucosidases, General Medicine, Enzyme replacement therapy, Middle Aged, Sciences bio-médicales et agricoles, ActivLim, Cohort, Respiratory, Human medicine, medicine.symptom, ACTIVITY LIMITATIONS, business, Glycogen storage disease type 2

وصف الملف: Electronic; 1 full-text file(s): application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f932426af19fae57187e166f23559dfTest
https://doi.org/10.1186/s13023-020-01353-4Test

المؤلفون: Eugenio Maria Mercuri, Hanns Lochmüller, S. Attarian, Maggie C. Walter, Tim Hagenacker, Christoph Kleinschnitz, Juan F. Vázquez-Costa, S Delstanche, C Neuwirth, Valeria A. Sansone

المصدر: Journal of neuromuscular diseases
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: 0301 basic medicine, Adult, medicine.medical_specialty, Oligonucleotides, Medizin, SMN1, Disease, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Outcome Assessment, Health Care, medicine, Humans, business.industry, Spinal muscular atrophy, Motor neuron, Congresses as Topic, medicine.disease, SMA, 5q-SMA, adult SMA, motor neuron, nusinersen, spinal muscular atrophy, Clinical trial, 030104 developmental biology, medicine.anatomical_structure, Neurology, Practice Guidelines as Topic, Nusinersen, Settore MED/26 - Neurologia, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af6d90eb57c25aeb2ab4b1b64432d1aTest
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=13279Test

المؤلفون: M. Poleur, M. Annoussamy, D. Eggenspieler, S. Delstanche, A. Daron, L. Servais

المصدر: Neuromuscular Disorders. 31:S130

مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1b8146010fd18e660431529ad7de6c50Test
https://doi.org/10.1016/j.nmd.2021.07.290Test

المؤلفون: S, Delstanche, T, Deflandre, B, Otto, L, Tshibanda, P, Simoni, G, Moonen

المصدر: Revue medicale de Liege. 68(4)

مصطلحات موضوعية: Male, Humans, Xanthomatosis, Cerebrotendinous, Middle Aged, Pedigree

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f277fe7d37982d842bae94787dcbb70aTest
https://pubmed.ncbi.nlm.nih.gov/23755706Test

المؤلفون: Sansone VA, Walter MC, Attarian S, Delstanche S, Mercuri E, Lochmüller H, Neuwirth C, Vazquez-Costa JF, Kleinschnitz C, Hagenacker T

المساهمون: V. Sansone, M. Walter, S. Attarian, S. Delstanche, E. Mercuri, H. Lochmüller, C. Neuwirth, J. Vazquez-Costa, C. Kleinschnitz, T. Hagenacker

مصطلحات موضوعية: Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000685108700018; journal:JOURNAL OF NEUROMUSCULAR DISEASES; http://hdl.handle.net/2434/795247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85088861062

الإتاحة: http://hdl.handle.net/2434/795247Test