المؤلفون: Karazi, Walaa, Coppers, Jacqueline, Maas, Daphne, Cup, Edith, Bloemen, Bart, Voet, Nicole, Pinós Figueras, Tomas, Marti, Ramon

المساهمون: Institut Català de la Salut, Karazi W, Coppers J Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Maas D, Cup E, Voet N Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Bloemen B Department for Health Evidence, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Pinos T, Marti Seves R Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain. Grup de Recerca de Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Qualitat de vida, Fatiga, Glicogenosi, Metabolisme - Trastorns, DISEASES::Nutritional and Metabolic Diseases::Metabolic Diseases::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V, HEALTH CARE::Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life, DISEASES::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Fatigue, ENFERMEDADES::enfermedades nutricionales y metabólicas::enfermedades metabólicas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V, ATENCIÓN DE SALUD::ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida, ENFERMEDADES::afecciones patológicas, signos y síntomas::signos y síntomas::fatiga

وصف الملف: application/pdf

العلاقة: Journal of Neuromuscular Diseases;11(1); https://doi.org/10.3233/JND-230027Test; Karazi W, Coppers J, Maas D, Cup E, Bloemen B, Voet N, et al. Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life. J Neuromuscul Dis. 2024;11(1):103–16.; https://hdl.handle.net/11351/10893Test

الإتاحة: https://doi.org/10.3233/JND-230027Test
https://hdl.handle.net/11351/10893Test

المؤلفون: Slipsager, Anna, Andersen, Linda Kahr, Voermans, Nicol Cornelia, Lucia, Alejandro, Karazi, Walaa, Santalla, Alfredo, Vissing, John, Løkken, Nicoline

المصدر: Slipsager , A , Andersen , L K , Voermans , N C , Lucia , A , Karazi , W , Santalla , A , Vissing , J & Løkken , N 2024 , ' Fatigue and associated factors in 172 patients with McArdle disease : An international web-based survey ' , Neuromuscular Disorders , vol. 34 , pp. 19-26 . https://doi.org/10.1016/j.nmd.2023.11.003Test

مصطلحات موضوعية: Fatigue, Glycogen storage disease type V, McArdle disease, Mental health, Survey

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.nmd.2023.11.003Test
https://curis.ku.dk/portal/da/publications/fatigue-and-associated-factors-in-172-patients-with-mcardle-diseaseTest(c9be2970-63fd-40cf-a657-fa3facb10cc0).html
https://curis.ku.dk/ws/files/381066101/1_s2.0_S0960896623007927_main.pdfTest

المؤلفون: Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C.

المصدر: Karazi , W , Scalco , R S , Stemmerik , M G , Løkken , N , Lucia , A , Santalla , A , Martinuzzi , A , Vavla , M , Reni , G , Toscano , A , Musumeci , O , Kouwenberg , C V , Laforêt , P , Millán , B S , Vieitez , I , Siciliano , G , Kühnle , E , Trost , R , Sacconi , S , Durmus , H , Kierdaszuk , B , Wakelin , A , Andreu , A L , Pinós , ....

مصطلحات موضوعية: Glycogen storage disease V, Health care, International registry, McArdle disease, Rare diseases

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1186/s13023-023-02825-zTest
https://curis.ku.dk/portal/da/publications/data-from-the-european-registry-for-patients-with-mcardle-disease-euromacTest(58ab3ce8-dd6d-42f2-b461-193bce18317d).html
https://curis.ku.dk/ws/files/367922104/s13023_023_02825_z.pdfTest

المؤلفون: Løkken, Nicoline, Voermans, Nicol C., Andersen, Linda K., Karazi, Walaa, Reason, Stacey L., Zweers, Heidi, Wilms, Gustav, Santalla, Alfredo, Susanibar, Edward, Lucia, Alejandro, Vissing, John

المصدر: Løkken , N , Voermans , N C , Andersen , L K , Karazi , W , Reason , S L , Zweers , H , Wilms , G , Santalla , A , Susanibar , E , Lucia , A & Vissing , J 2023 , ' Patient-Reported Experiences with a Low-Carbohydrate Ketogenic Diet : An International Survey in Patients with McArdle Disease ' , Nutrients , vol. 15 , no. 4 , 843 . https://doi.org/10.3390/nu15040843Test

مصطلحات موضوعية: glycogen storage disease type V, ketogenic diet, low carbohydrate ketogenic diet, McArdle disease, patient-reported experiences, survey

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.3390/nu15040843Test
https://curis.ku.dk/portal/da/publications/patientreported-experiences-with-a-lowcarbohydrate-ketogenic-dietTest(05490329-c0bd-4a1b-92e3-760bac4b4dee).html
https://curis.ku.dk/ws/files/367838057/nutrients_15_00843.pdfTest

المؤلفون: Karazi, Walaa, Scalco, Renata S., Stemmerik, Mads G., Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V., Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer

المصدر: Orphanet Journal of Rare Diseases; 7/25/2023, p1-9, 9p

مصطلحات موضوعية: SOCIAL participation, FUNCTIONAL status, SOCIAL status, MEDICAL registries, STAIR climbing

مصطلحات جغرافية: EUROPE

المؤلفون: Løkken, Nicoline, Voermans, Nicol C., Andersen, Linda K., Karazi, Walaa, Reason, Stacey L., Zweers, Heidi, Wilms, Gustav, Santalla, Alfredo, Susanibar, Edward, Lucia, Alejandro, Vissing, John

المصدر: Nutrients; Feb2023, Vol. 15 Issue 4, p843, 14p

المؤلفون: Karazi, Walaa, Coppers, Jacqueline, Maas, Daphne, Cup, Edith, Bloemen, Bart, Voet, Nicole, Groothuis, Jan T., Pinós, Tomàs, Marti Seves, Ramon, Quinlivan, Ros, Løkken, Nicoline, Vissing, John, Bhai, Salman, Wakelin, Andrew, Reason, Stacey, Voermans, Nicol C.

المصدر: Journal of Neuromuscular Diseases; 20230101, Issue: Preprints p1-19, 19p