المؤلفون: Cacheiro, P., Ordóñez-Ugalde, A., Quintáns, B., Piñeiro-Hermida, S., Amigo, J., García-Murias, M., Pascual-Pascual, S. I., Grandas, F., Arpa, J., Carracedo, A., Sobrido, M. J.

المصدر: Molecular Diagnosis & Therapy. June 2017 21(3):303-313

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المؤلفون: van der Ploeg, A. T., Kruijshaar, M. E., Toscano, A., Laforêt, P., Angelini, C., Lachmann, R. H., Pascual Pascual, S. I., Roberts, M., Rösler, K., Stulnig, T., van Doorn, P. A., Van den Bergh, P. Y. K., Vissing, J., Schoser, B., Bembi, Bruno, Broomfield, Alexander, Boentert, Matthias, Desnuelle, Claude, Findling, Oliver, Hahn, Andreas, Díaz-Manera, Jordi, Hundsberger, Thomas, Kornblum, Cornelia, Labarthé, Franҫois, Laforet, Pascal, Mengel, Karl-Eugen, Mongini, Tiziana, Muller-Felber, Wolfgang, Parenti, Giancarlo, Pijnappel, W. Pim, Preisler, Nicolai, Sacconi, Sabrina, Talim, Beril, Tardieu, Marine, van der Beek, Nadine A. M. E, Wenninger, Stephan

المساهمون: Pediatrics, Neurology, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: European Journal of Neurology, 24(6), 768-E31. Wiley-Blackwell Publishing Ltd
Nervno-Myšečnye Bolezni, Vol 8, Iss 4, Pp 19-34 (2019)
Nervno-Myshechnye Bolezni, 8(4), 19-34. ABV-press Publishing house
European Journal of Neurology, Vol. 24, no. 6, p. 768-779; e29-e31 (2017)
Neuromuscular Diseases, Vol. 8, no. 4, p. 19-34 (2018)

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, alglucosidase alfa, алглюкозидаза альфа, adult patients, Disease, болезнь помпе, enzyme replacement therapy, guidelines, Pompe disease, treatment recommendations, Adult, Consensus, Drug Administration Schedule, Europe, Glycogen Storage Disease Type II, Humans, Practice Guidelines as Topic, Enzyme Replacement Therapy, Quality of Life, Neurology, Neurology (clinical), 0302 clinical medicine, Quality of life, взрослые пациенты, 610 Medicine & health, Treatment recommendations, Adult patients, Alglucosidase alfa, Enzyme replacement therapy, Guidelines, ферментная заместительная терапия, руководство, medicine.drug, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Muscle disorder, 03 medical and health sciences, medicine, RC346-429, Pregnancy, business.industry, nutritional and metabolic diseases, medicine.disease, Clinical trial, рекомендации по лечению, 030104 developmental biology, Physical therapy, Observational study, Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2cad42d1a157fe5c9e1a6d56e1003d
https://doi.org/10.17650/2222-8721-2018-8-4-19-34

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المؤلفون: Wrobe, D., Henseler, M., Huettler, S., Pascual Pascual, S. I., Chabas, A., Sandhoff, K.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. February 2000 23(1):63-76

المؤلفون: Merinero, B., Pascual Pascual, S. I., Pérez-Cerdá, C., Gangoiti, J., Castro, M., Garcia, M. J., Pascual Castroviejo, I., Vianey-Saban, C., Andresen, B., Gregersen, N., Ugarte, M.

المصدر: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. October 1999 22(7):802-810

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المؤلفون: Pascual-Castroviejo, I., Viaño, J., Pascual-Pascual, S. I., Martinez, V.

المصدر: Neuroradiology: A Journal Devoted to Neuroimaging and Interventional Neuroradiology. November 1995 37(8):692-695

المؤلفون: Pascual-Castroviejo, I., Velez, A., Pascual-Pascual, S. I., Roche, M. C., Villarejo, F.

المصدر: Child's Nervous System. April 1991 7(2):88-97

المؤلفون: Lupo, V., Won, S., Frasquet, M., Schnitzler, M. S., Komath, S. S., Pascual‐Pascual, S. I., Espinós, C., Svaren, J., Sevilla, T.

المصدر: European Journal of Neurology; Dec2020, Vol. 27 Issue 12, p2662-2667, 6p

مصطلحات موضوعية: RECESSIVE genes, NEUROPATHY, ZINC-finger proteins, GENETIC counseling, MISSENSE mutation, PROTEIN-protein interactions, POLYNEUROPATHIES, TRIGEMINAL neuralgia