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1دورية أكاديمية
المؤلفون: Nicoline Løkken, Nicol C. Voermans, Linda K. Andersen, Walaa Karazi, Stacey L. Reason, Heidi Zweers, Gustav Wilms, Alfredo Santalla, Edward Susanibar, Alejandro Lucia, John Vissing
المصدر: Nutrients, Vol 15, Iss 4, p 843 (2023)
مصطلحات موضوعية: McArdle disease, ketogenic diet, low carbohydrate ketogenic diet, glycogen storage disease type V, survey, patient-reported experiences, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
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المؤلفون: Inés García-Consuegra, Sara Asensio-Peña, Rocío Garrido-Moraga, Tomàs Pinós, Cristina Domínguez-González, Alfredo Santalla, Gisela Nogales-Gadea, Pablo Serrano-Lorenzo, Antoni L. Andreu, Joaquín Arenas, José L. Zugaza, Alejandro Lucia, Miguel A. Martín
المساهمون: Institut Català de la Salut, [García-Consuegra I, Domínguez-González C] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. [Asensio-Peña S, Garrido-Moraga R] Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. [Pinós T] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Grup de Recerca de Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Santalla A] Department of Computer and Sport Sciences, Universidad Pablo de Olavide, Sevilla, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: International Journal of Molecular Sciences
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Addi. Archivo Digital para la Docencia y la Investigación
Universidad de Alicante (UA)
International Journal of Molecular Sciences; Volume 23; Issue 9; Pages: 4650
Scientiaمصطلحات موضوعية: McArdle disease, Proteome, Múscul estriat - Patogènesi, Enfermedad del almacenamiento de glucógeno tipo V, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Glycogen Storage Disease::Glycogen Storage Disease Type V [DISEASES], Enfermedad cardiovascular, Genética humana, Biological Factors::Biomarkers [CHEMICALS AND DRUGS], Catalysis, factores biológicos::biomarcadores [COMPUESTOS QUÍMICOS Y DROGAS], PYGM, Inorganic Chemistry, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::enfermedad por almacenamiento de glucógeno::enfermedad por almacenamiento de glucógeno tipo V [ENFERMEDADES], proteomics, myophosphorylase, Other subheadings::Other subheadings::/genetics [Other subheadings], Humans, Protein Isoforms, Physical and Theoretical Chemistry, skeletal muscle, Muscle, Skeletal, aminoácidos, péptidos y proteínas::proteínas::proteoma [COMPUESTOS QUÍMICOS Y DROGAS], Molecular Biology, Spectroscopy, GSDV, iTRAQ, metabolic myopathy, protein biomarkers, Metabolismo, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Organic Chemistry, General Medicine, Computer Science Applications, Glicogen, Marcadors bioquímics, Glycogen Storage Disease Type V, Metabolisme, Errors congènits del, Amino Acids, Peptides, and Proteins::Proteins::Proteome [CHEMICALS AND DRUGS], Biomarkers, Glycogen
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244b932b2fd543f5a5ec25d294df5ba0Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2574Test -
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المؤلفون: ALFREDO SANTALLA, PEDRO L. VALENZUELA, CARLOS RODRIGUEZ-LOPEZ, IRENE RODRÍGUEZ-GÓMEZ, GISELA NOGALES-GADEA, TOMÀS PINÓS, JOAQUÍN ARENAS, MIGUEL A. MARTÍN, ALEJANDRO SANTOS-LOZANO, MARÍA MORÁN, CARMEN FIUZA-LUCES, IGNACIO ARA, ALEJANDRO LUCIA
المصدر: MEDICINE & SCIENCE IN SPORTS & EXERCISE
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUIdeRA. Repositorio Institucional de la UCLMمصطلحات موضوعية: Male, Bone Density, GLYCOGEN STORAGE DISEASE, Glycogen Storage Disease Type V, Humans, Physical Therapy, Sports Therapy and Rehabilitation, Orthopedics and Sports Medicine, Glycogenosys type 5, MYOPHOSPHORYLASE, Exercise, Exercise Therapy, EXERCISE IS MEDICINE, GLYCOGENOSIS TYPE 5
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d476e63505e43d87a393afb357f6ca2Test
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=6934Test -
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المؤلفون: Alejandro Lucia, Carlos Rodriguez-Lopez, Ignacio Ara, Alejandro Santos-Lozano, Alfredo Santalla, Ian Linares-Pardo, Emma Koehorst, Gisela Nogales-Gadea, Alba Ramos-Fransi, Daniëlle Coenen, Miriam Almendrote, Judit Núñez-Manchón, Miguel A. Martín, Guillem Pintos-Morell, Alfonsina Ballester-Lopez, Joaquín Arenas, Giuseppe Lucente, Alicia Martínez-Piñeiro, Mauricio de Castro, Jaume Coll-Cantí
المساهمون: Promovendi CD, Biochemie, RS: CARIM - R1.03 - Cell biochemistry of thrombosis and haemostasis
المصدر: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Journal of Inherited Metabolic Disease, 41(6), 1027-1035. Wileyمصطلحات موضوعية: Male, 0301 basic medicine, myalgia, Second wind, Genética humana, 0302 clinical medicine, Genetics (clinical), Aged, 80 and over, PAIN, WINGATE ANAEROBIC TEST, Middle Aged, RELIABILITY, Glycogen Phosphorylase, Muscle Form, Female, medicine.symptom, Adult, Heterozygote, medicine.medical_specialty, Weakness, McArdle disease, Statin, medicine.drug_class, Investigación médica, Young Adult, 03 medical and health sciences, Glycogen phosphorylase, Internal medicine, Genetics, medicine, Humans, Family, Genetic Testing, Lactic Acid, Allele, Muscle, Skeletal, PYGM MUTATIONS, Aged, Wingate test, business.industry, Heterozygote advantage, Myalgia, GENE, 030104 developmental biology, Mutation, Exercise Test, Glycogen Storage Disease Type V, UPDATE, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8da98cd3d23a3807e4f579b7c7a2eeTest
https://cris.maastrichtuniversity.nl/en/publications/52723cfd-81a3-4149-873c-faf67343d401Test -
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المؤلفون: Alejandro Lucia, Andrea Martinuzzi, Gisela Nogales-Gadea, Ros Quinlivan, Stacey Reason, Deeksha Bali, Richard Godfrey, Ronald Haller, Priya Kishnani, Pascal Laforêt, Nicoline Løkken, Olimpia Musumeci, Alfredo Santalla, Mark Tarnopolsky, Antonio Toscano, John Vissing, Nicol Voermans, Andrew Wakelin
المساهمون: International Association for Muscle Glycogen Storage Disease study group
المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)مصطلحات موضوعية: medicine.medical_specialty, MCARDLE DISEASE, Enfermedad del almacenamiento de glucógeno tipo V, McArdle, Enfermedad cardiovascular, Disease, Tarui, Gastroenterology, chemistry.chemical_compound, Internal medicine, myophosphorylase, medicine, Genetics (clinical), Biología molecular, Glycogen, business.industry, medicine.disease, Genética, Clinical practice guidelines, Myophosphorylase, Phosphofructokinase, Clinical Practice, phosphofructokinase, Neurology, chemistry, glycogen, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, clinical practice guidelines, Glycogen storage disease type V
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee1414a87b12b5a363e1a5733b3cd92Test
https://hdl.handle.net/11268/11047Test -
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المؤلفون: Joaquín Arenas, Alejandro Lucia, Ignacio Ara, Irene Rodríguez-Gómez, Luis M. Alegre, Diego Munguía-Izquierdo, Jorge Díez-Bermejo, Miguel Martín, Gisela Nogales-Gadea, Alfredo Santalla
المصدر: International Journal of Environmental Research and Public Health, Vol 17, Iss 4334, p 4334 (2020)
International Journal of Environmental Research and Public Health
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUIdeRA. Repositorio Institucional de la UCLM
Volume 17
Issue 12
RUIdeRA: Repositorio Institucional de la UCLM
Universidad de Castilla-La Mancha
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, obesity, Health, Toxicology and Mutagenesis, Enfermedad cardiovascular, physical activity, lcsh:Medicine, Exercise intolerance, Genética humana, Aparato circulatorio, Article, Estilo de vida, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Absorptiometry, Photon, Sex Factors, Internal medicine, Medicine, Humans, In patient, Life Style, Adiposity, DXA, exercise, business.industry, lcsh:R, Public Health, Environmental and Occupational Health, fat mass, 030229 sport sciences, Odds ratio, medicine.disease, Obesity, Trunk, Enfermedades, Confidence interval, inactivity, Glycogen Storage Disease Type V, Body region, Female, medicine.symptom, business, Body mass index, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a7d4ca7276e689d692fea84db327b0Test
https://www.mdpi.com/1660-4601/17/12/4334Test -
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المؤلفون: Ignacio Ara, Miguel Angel Galindo Martín, Alejandro Lucia, Joaquín Arenas, Alfredo Santalla, Jorge Díez-Bermejo, Diego Munguía-Izquierdo, Luis M. Alegre, Gisela Nogales-Gadea, Irene Rodríguez-Gómez
المصدر: Medicine & Science in Sports & Exercise. 50:3-10
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, McArdle disease, Bone density, 030209 endocrinology & metabolism, Physical Therapy, Sports Therapy and Rehabilitation, Exercise intolerance, Fisiología humana, Bone and Bones, Young Adult, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Bone Density, Internal medicine, Humans, Medicine, Orthopedics and Sports Medicine, Young adult, Muscle, Skeletal, Exercise, Músculos - Fisiología, Anthropometry, business.industry, Case-control study, Middle Aged, Deporte, medicine.disease, Trunk, Cross-Sectional Studies, Endocrinology, Case-Control Studies, Body Composition, Lean body mass, Glycogen Storage Disease Type V, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Glycogen storage disease type V
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3c48b11eb5db85a6e5c6acbf2a3b4fbTest
https://doi.org/10.1249/mss.0000000000001414Test -
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المؤلفون: Ros Quinlivan, Ramon Martí, Alejandro Lucia, Richard Godfrey, Renata S Scalco, J. Pattni, Alfredo Santalla
المصدر: Neuromuscular Disorders. 25:739-745
مصطلحات موضوعية: Ciencia, Male, Gerontology, business.industry, Enfermedades - McArdle, Salud, Exercise therapy, Ejercicio físico, Exercise Therapy, Clinical neurology, Neurology, Spain, Pediatrics, Perinatology and Child Health, Exercise Test, Glycogen Storage Disease Type V, Humans, Medicine, Female, Registries, Neurology (clinical), business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f05836eedc2ddec7afb354b539501157Test
https://doi.org/10.1016/j.nmd.2015.05.009Test -
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المؤلفون: Ignacio Ara, Irene Rodríguez-Gómez, Alejandro Lucia, Diego Munguía-Izquierdo, Joaquín Arenas, Luis M. Alegre, M. A. Martín, Jorge Díez-Bermejo, Gisela Nogales-Gadea, Alfredo Santalla
المصدر: Journal of Inherited Metabolic Disease
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
RUIdeRA. Repositorio Institucional de la UCLMمصطلحات موضوعية: Male, Bone density, Osteoporosis, Fisiología humana, Body Mass Index, Muscle hypertrophy, Absorptiometry, Photon, 0302 clinical medicine, Bone Density, Enfermedad de McArdle, Child, Creatine Kinase, Children, Genetics (clinical), Metabolismo, biology, Non-osteogenic muscle hypertrophy, Body Composition, Female, medicine.symptom, Enfermedad, medicine.medical_specialty, McArdle disease, Adolescent, Exercise intolerance, Niños - Enfermedades, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Muscle, Skeletal, Niños, Leg, Músculos - Fisiología, business.industry, Case-control study, Hypertrophy, 030229 sport sciences, medicine.disease, Cross-Sectional Studies, Endocrinology, Case-Control Studies, biology.protein, Lean body mass, Glycogen Storage Disease Type V, Creatine kinase, Hipertrofia muscular no osteogénica, business, Body mass index, 030217 neurology & neurosurgery
وصف الملف: text/plain; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6515a7e901f716d6bdee9a529cca335dTest
https://hdl.handle.net/11268/7312Test -
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المؤلفون: Miguel A. Martín, Alejandro Lucia, María Morán, Joaquín Arenas, Gisela Nogales-Gadea, Alfredo Santalla
المصدر: ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Gerontology, medicine.medical_specialty, Physiology, Hidratos de carbono en nutrición, Carbohydrates, Disease, Biology, Muscle physiology, Diet, High-Fat, Walkers, World class, 03 medical and health sciences, 0302 clinical medicine, glycogenosis, Internal medicine, medicine, Endocrinología, Humans, Letters, 030229 sport sciences, Diet, Endocrinology, Athletes, Nutrición, Glycogen Storage Disease Type V, Glycogen depletion, Glycogen, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7e68b9de345e6527c6971e019c854fdTest
http://hdl.handle.net/11268/6403Test