المؤلفون: Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-16 (2022)

مصطلحات موضوعية: Drug development, People-centricity, Congenital disorder(s) of glycosylation (CDG), Electronic (e-)survey, Patient-reported outcome measures, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/1a0260e2920f40c4a53b43d60ba5fd49

المؤلفون: Pascoal, C.^{Aff1, Aff2, Aff3, Aff4}, Ferreira, I., Teixeira, C.^{Aff2, Aff5}, Almeida, E.^{Aff2, Aff3}, Slade, A., Brasil, S.^{Aff1, Aff2, Aff3, Aff4}, Francisco, R.^{Aff1, Aff2, Aff3, Aff4}, Ligezka, A. N., Morava, E., Plotkin, H., Jaeken, J.^{Aff2, Aff9}, Videira, P. A.^{Aff1, Aff2, Aff3, Aff4}, Barros, L.^{Aff2, Aff10}, dos Reis Ferreira, V.^{Aff1, Aff2, Aff3, Aff4, IDs1302302202551y_cor14}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Francisco, Rita^{Aff1, Aff2, Aff3}, Brasil, Sandra^{Aff1, Aff2, Aff3}, Pascoal, Carlota^{Aff1, Aff2, Aff3}, Jaeken, Jaak^{Aff1, Aff4}, Liddle, Merell, Videira, Paula A.^{Aff1, Aff2, Aff3}, dos Reis Ferreira, Vanessa^{Aff1, Aff2, Aff3, IDs1302302202286w_cor7}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Monticelli, Maria^{Aff1, Aff2}, Francisco, Rita^{Aff2, Aff3, Aff4, IDs13023022024600_cor2}, Brasil, Sandra^{Aff2, Aff3, Aff4, Aff5}, Marques-da-Silva, Dorinda^{Aff2, Aff5, Aff6, Aff7}, Rijoff, Tatiana^{Aff2, Aff8}, Pascoal, Carlota^{Aff2, Aff3, Aff4, Aff5}, Jaeken, Jaak^{Aff2, Aff9}, Videira, Paula A.^{Aff2, Aff3, Aff4, Aff5}, dos Reis Ferreira, Vanessa^{Aff2, Aff3, Aff5, IDs13023022024600_cor9}

المصدر: Orphanet Journal of Rare Diseases. 17(1)

المؤلفون: Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira, Vanessa dos Reis Ferreira

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Congenital Disorders of Glycosylation (CDG), Rare diseases, People-centricity, Patient engagement, Patient empowerment, Patient recruitment, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/39f220057f1b4473a57de27ecccfae2a

المؤلفون: Gudergan, Gerhard^Aff13, Moghaddam, Yassi^Aff14

المساهمون: Kacprzyk, Janusz, Series Editor^Aff1, Gomide, Fernando, Advisory Editor^Aff2, Kaynak, Okyay, Advisory Editor^Aff3, Liu, Derong, Advisory Editor^Aff4, Pedrycz, Witold, Advisory Editor^Aff5, Polycarpou, Marios M., Advisory Editor^Aff6, Rudas, Imre J., Advisory Editor^Aff7, Wang, Jun, Advisory Editor^Aff8, Leitner, Christine, editor^Aff9, Ganz, Walter, editor^Aff10, Satterfield, Debra, editor^Aff11, Bassano, Clara, editor^Aff12

المصدر: Advances in the Human Side of Service Engineering : Proceedings of the AHFE 2021 Virtual Conference on The Human Side of Service Engineering, July 25-29, 2021, USA. 266:197-203

المؤلفون: Pascoal, C., Ferreira, I., Teixeira, C., Almeida, E., Slade, A., Brasil, S., Francisco, R., Ligezka, A. N., Morava, E., Plotkin, H., Jaeken, J., Videira, P. A., Barros, L., dos Reis Ferreira, V.

المساهمون: UCIBIO - Applied Molecular Biosciences Unit, DCV - Departamento de Ciências da Vida

مصطلحات موضوعية: Quality of life, Outcome assessment, Observer reported outcomes, People-centricity, Genetics(clinical), Pharmacology (medical), Patient reported outcomes, PMM2-CDG, Rare diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1437::56633473edcdad1d312cd7239069c531
https://hdl.handle.net/10362/151351

المؤلفون: C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira

مصطلحات موضوعية: Quality of life, Glycosylation, CHILDHOOD EPILEPSY QUESTIONNAIRE, HANDICAP INDEX, Research & Experimental Medicine, PMM2-CDG, VALIDATION, DISEASE, Congenital Disorders of Glycosylation, Observer reported outcomes, QUALITY-OF-LIFE, Humans, Pharmacology (medical), SWAL-QOL, IDIOPATHIC SCOLIOSIS, Patient Reported Outcome Measures, VALIDITY, Patient reported outcomes, Genetics (clinical), Genetics & Heredity, Science & Technology, General Medicine, OROPHARYNGEAL DYSPHAGIA, Rare diseases, Outcome assessment, Medicine, Research & Experimental, Phosphotransferases (Phosphomutases), RELIABILITY, Quality of Life, People-centricity, Life Sciences & Biomedicine

وصف الملف: Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e0dffe975c251280c5398ce79f6b4c
https://lirias.kuleuven.be/handle/20.500.12942/706689

المؤلفون: Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira, Fernando Pimentel-Santos, Sandra Brasil, Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Ana Rita Grosso, Ruqaiah Altassan

المساهمون: DCV - Departamento de Ciências da Vida, UCIBIO - Applied Molecular Biosciences Unit, Centro de Estudos de Doenças Crónicas (CEDOC), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

المصدر: Journal of Clinical Medicine
Volume 9
Issue 7
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Clinical Medicine, Vol 9, Iss 2092, p 2092 (2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Allergy, congenital, hereditary, and neonatal diseases and abnormalities, Population, QUESTIONNAIRE, lcsh:Medicine, BROAD-SPECTRUM, macromolecular substances, OSTEOPOROSIS, e-questionnaire, PATIENT, Article, PMM2-CDG, immune response, 03 medical and health sciences, Medicine, General & Internal, 0302 clinical medicine, Immune system, SDG 3 - Good Health and Well-being, General & Internal Medicine, VALPROIC ACID, medicine, infections, Pmm2 cdg, education, people-centricity, gastrointestinal tract (GI), 030304 developmental biology, 0303 health sciences, education.field_of_study, Science & Technology, IA, business.industry, allergies, congenital disorder(s) of glycosylation (CDG), lcsh:R, General Medicine, CARE, medicine.disease, vaccination, ANTICONVULSANT DRUG, DEFICIENCY, Vaccination, gastrointestinal tract (GI), e-questionnaire, business, Life Sciences & Biomedicine, 030217 neurology & neurosurgery, Red flags

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969320cc21e30200bab2235298d0dc09
http://europepmc.org/articles/PMC7408855

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