المؤلفون: Mackenzie C. Batt, Leila G. Venzor, Keri Gardner, Rachel R. Reith, Kelsey A. Roberts, Nicolas J. Herrera, Anna M. Fuller, Gary A. Sullivan, J. Travis Mulliniks, Matthew L. Spangler, Stephanie J. Valberg, David J. Steffen, Jessica L. Petersen

المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Bos taurus, Glycogen storage disease type V, Exercise intolerance, De novo variant, Livestock production, Mendelian disease, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2164Test

الوصول الحر: https://doaj.org/article/59ee9842094f4ac9b84046c3172dde9dTest

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-mcardleTest-disease(c9be2970-63fd-40cf-a657-fa3facb10cc0).html
https://curis.ku.dk/ws/files/381066101/1_s2.0_S0960896623007927_main.pdfTest

المؤلفون: Hira Kalsoom, Haseeb Mukhtar, Rizwana Kilchew Latif

المصدر: Journal of the Pakistan Medical Association, Vol 73, Iss 12 (2023)

مصطلحات موضوعية: Glycogen Storage Disease Type V, Myoglobinuria, Medicine

وصف الملف: electronic resource

العلاقة: https://www.ojs.jpma.org.pk/index.php/public_html/article/view/8401Test; https://doaj.org/toc/0030-9982Test

الوصول الحر: https://doaj.org/article/adf0224bf4ed40648844354d9884fd2dTest

المؤلفون: António Mateus-Pinheiro, Tiago Costa, Hélder Esperto, Sónia Moreira

المصدر: Acta Médica Portuguesa, Vol 36, Iss 3 (2023)

مصطلحات موضوعية: Glycogen Storage Disease Type V/diagnosis, Glycogen Storage Disease Type V/epidemiology, Portugal, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://actamedicaportuguesa.com/revista/index.php/amp/article/view/19315Test; https://doaj.org/toc/0870-399XTest; https://doaj.org/toc/1646-0758Test

الوصول الحر: https://doaj.org/article/6a8790462481402a81f4135bab878a9bTest

المؤلفون: Swanson, Raymond A

مصطلحات موضوعية: Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Underpinning research, 1.1 Normal biological development and functioning, Affordable and Clean Energy, Adenosine Triphosphate, Animals, Astrocytes, Brain, Glycogen, Glycogen Phosphorylase, Glycogen Storage Disease Type V, Glycogenolysis, Humans, Muscle Cells, Muscle, Skeletal, Phosphates, Phosphocreatine, Thermodynamics, Astrocyte, ATP, Glucose, McArdle disease, Phosphate, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6hv8b8c3Test

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; Volume 15; Issue 4; Pages: 843

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

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Nutrition and Metabolism; https://dx.doi.org/10.3390/nu15040843Test

الإتاحة: https://doi.org/10.3390/nu15040843Test

المؤلفون: Løkken, Nicoline, Nielsen, Maja Risager, Stemmerik, Mads Godtfeldt, Ellerton, Charlotte, Revsbech, Karoline Lolk, Macrae, Margaret, Slipsager, Anna, Krett, Bjørg, Beha, Gry Hatting, Emanuelsson, Frida, van Hall, Gerrit, Quinlivan, Rosaline, Vissing, John

المصدر: Løkken , N , Nielsen , M R , Stemmerik , M G , Ellerton , C , Revsbech , K L , Macrae , M , Slipsager , A , Krett , B , Beha , G H , Emanuelsson , F , van Hall , G , Quinlivan , R & Vissing , J 2023 , ' Can a modified ketogenic diet be a nutritional strategy for patients with McArdle disease? Results from a randomized, single-blind, placebo-controlled, cross-over study ' , Clinical Nutrition , vol. 42 , no. 11 , pp. 2124-2137 . https://doi.org/10.1016/j.clnu.2023.09.006Test

مصطلحات موضوعية: Glycogen storage disease type V, McArdle disease, Modified ketogenic diet, Randomized clinical trial

وصف الملف: text/html

الإتاحة: https://doi.org/10.1016/j.clnu.2023.09.006Test
https://curis.ku.dk/portal/da/publications/can-a-modified-ketogenic-diet-be-a-nutritional-strategy-for-patients-with-mcardleTest-disease-results-from-a-randomized-singleblind-placebocontrolled-crossover-study(4f264664-f6d9-4a28-9126-0ef9fa078bb7).html
https://curis.ku.dk/ws/files/371032127/Can_a_modified_ketogenic.htmTest
http://www.scopus.com/inward/record.url?scp=85174013060&partnerID=8YFLogxKTest

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: Løkken, Nicoline, Khawajazada, Tahmina, Slipsager, Anna, Voermans, Nicol C., Vissing, John

المصدر: Løkken , N , Khawajazada , T , Slipsager , A , Voermans , N C & Vissing , J 2023 , ' Repeated oral sucrose dosing after the second wind is unnecessary in patients with McArdle disease : Results from a randomized, placebo-controlled, double-blind, cross-over study ' , Journal of Inherited Metabolic Disease , vol. 46 , no. 6 , pp. 1139-1146 . https://doi.org/10.1002/jimd.12656Test

مصطلحات موضوعية: exercise capacity, glycogen storage disease type V, McArdle disease, sucrose supplementation

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/jimd.12656Test
https://curis.ku.dk/portal/da/publications/repeated-oral-sucrose-dosing-after-the-second-wind-is-unnecessary-in-patients-with-mcardleTest-disease(0a6df103-38ac-419d-a9d7-d26e0c74d3b4).html
https://curis.ku.dk/ws/files/375552854/J_of_Inher_Metab_Disea_2023_L_kken_Repeated_oral_sucrose_dosing_after_the_second_wind_is_unnecessary_in_patients_with.pdfTest

المؤلفون: Batt, Mackenzie, Venzor, Leila G., Gardner, Keri, Reith, Rachel R., Roberts, Kelsey A., Herrera, Nicolas J., Fuller, Anna M., Sullivan, Gary, Mulliniks, J. Travis, Spangler, Matthew L, Valberg, Stephanie J., Steffen, David J., Petersen, Jessica Lynn

المصدر: Department of Animal Science: Faculty Publications

مصطلحات موضوعية: Bos taurus, Glycogen storage disease type V, Exercise intolerance, De novo variant, Livestock production, Mendelian disease, McArdle disease, Dark cutter, Animal Sciences, Genetics and Genomics, Meat Science

وصف الملف: application/pdf

العلاقة: https://digitalcommons.unl.edu/animalscifacpub/1295Test; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive.pdfTest; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/0Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL4.pdf; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/1Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL1.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/2Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL2.pdf; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/3Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL3.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/4Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL5.pdf; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/5Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL7.pdf; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/6Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL8.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/7Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL9.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/8Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL10.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/9Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL11.xlsx; https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/10Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL12.xlsx

الإتاحة: https://digitalcommons.unl.edu/animalscifacpub/1295Test
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive.pdfTest
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/0Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL4.pdf
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/1Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL1.xlsx
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/2Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL2.pdf
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/3Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL3.xlsx
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/4Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL5.pdf
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/5Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL7.pdf
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/6Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL8.xlsx
https://digitalcommons.unl.edu/context/animalscifacpub/article/2298/filename/7Test/type/additional/viewcontent/Sullivan_BMCG_2024_An_autosomal_recessive_SUPPL9.xlsx