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المؤلفون: Kieran Clarke, Jeroen A. L. Jeneson, Ulrike Steuerwald, Caroline J. van Der Schaaf, Irene J. Hoogeveen, Johannes H. van der Hoeven, Terry G J Derks, Riemer J K Vegter, Anita Sibeijn-Kuiper, M. Rebecca Heiner-Fokkema, Pete J. Cox, Foekje de Boer, Willemijn F. Boonstra
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), SMART Movements (SMART)
المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(1), 226-239. SPRINGERمصطلحات موضوعية: Blood Glucose, Male, 31P‐MRS, Glycogen Storage Disease Type III, MYOPATHY, P-31-MRS, DEBRANCHER DEFICIENCY, Glycogen storage disease, Respiratory exchange ratio, acute nutritional ketosis, Genetics (clinical), Netherlands, Cross-Over Studies, exercise, Esters, Ketones, Middle Aged, MUSCLE ULTRASOUND, Phenotype, Ketone bodies, Carbohydrate Metabolism, SKELETAL-MUSCLE, Female, Original Article, medicine.symptom, Diet, Ketogenic, Adult, medicine.medical_specialty, ketone‐ester, Carbohydrate metabolism, Glycogen debranching enzyme, Beverages, Muscular Diseases, glycogen storage disease, Internal medicine, CARBOHYDRATE, Dietary Carbohydrates, Genetics, medicine, MANAGEMENT, Humans, Muscle, Skeletal, Myopathy, ketone-ester, WORK, business.industry, III DIAGNOSIS, Ketosis, Original Articles, OXIDATIVE-METABOLISM, medicine.disease, KETONE-BODIES, Crossover study, Endocrinology, business
وصف الملف: application/pdf
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المؤلفون: A. Bordugo, Irene J Hoogeveen, Surekha Pendyal, Foekje de Boer, Chiara Montanari, Serena Gasperini, Giancarlo Parenti, Vanessa B Bastek, Carmen Campana, U. Meyer, A. Rossi, Daniela Melis, Pietro Strisciuglio, Arianna Maiorana, Miriam Rigoldi, S. Paci, Terry G J Derks, Priya S. Kishnani, A. Dianin, Rossella Parini
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Rossi, A., Hoogeveen, I. J., Bastek, V. B., de Boer, F., Montanari, C., Meyer, U., Maiorana, A., Bordugo, A., Dianin, A., Campana, C., Rigoldi, M., Kishnani, P. S., Pendyal, S., Strisciuglio, P., Gasperini, S., Parenti, G., Parini, R., Paci, S., Melis, D., Derks, T. G. J.
المصدر: Journal of Inherited Metabolic Disease, 43(4), 770-777. SPRINGER
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: medicine.medical_specialty, high fat, Dietary lipid, Cardiomyopathy, glycogen storage diseases, Glycogen storage disease type III, Triglyceride, Glycogen Storage Disease Type III, 03 medical and health sciences, glycogen storage disease, dietary intervention, medium‐chain triglycerides, Internal medicine, Genetics, Humans, Medicine, Child, Myopathy, Triglycerides, Genetics (clinical), Cardiomyopathie, Monitoring, Physiologic, 030304 developmental biology, 0303 health sciences, medium-chain triglycerides, metabolic control, biology, business.industry, 030305 genetics & heredity, Original Articles, medicine.disease, Dietary Fats, Liver, Hepatocellular carcinoma, Cohort, biology.protein, Original Article, Creatine kinase, medicine.symptom, Literature study, Cardiomyopathies, business, medium-chain triglyceride, Human
وصف الملف: application/pdf
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المؤلفون: Rob Burghard, Melanie M. van der Klauw, Maaike H. Oosterveer, Irene J Hoogeveen, R Lude Feldbrugge, Foekje de Boer, Marieke J Fokkert-Wilts, Terry G J Derks, Fabian Peeks
المساهمون: Life Course Epidemiology (LCE), Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Journal of Inherited Metabolic Disease, 44(5), 1136-1150. SPRINGER
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, endocrine system diseases, empagliflozin, Datasets as Topic, Disease, centered outcomes, Young Adult, person‐centered outcomes, 03 medical and health sciences, glycogen storage disease, Internal medicine, Diabetes mellitus, Genetics, Empagliflozin, Humans, Medicine, Glycogen storage disease, Child, Genetics (clinical), Retrospective Studies, 030304 developmental biology, 0303 health sciences, business.industry, Continuous glucose monitoring, Blood Glucose Self-Monitoring, 030305 genetics & heredity, Confounding, nutritional and metabolic diseases, Original Articles, medicine.disease, Fourier analysis, Glucose management, Outcome parameter, Glucose, Child, Preschool, diabetes mellitus, Regression Analysis, Female, Original Article, continuous glucose monitoring, person‐, business
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المؤلفون: Thomas A. H. Steunenberg, Carolina Fischinger Moura de Souza, Terry G J Derks, Foekje de Boer, Irene J Hoogeveen, Helen Mundy, John J. Mitchell, David A. Weinstein, Charlotte M A Lubout, Fabian Peeks
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Molecular Genetics and Metabolism, 125(1-2), 79-85. ACADEMIC PRESS INC ELSEVIER SCIENCE
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Complications, SYMPTOMS, Adolescent, Diet therapy, Endocrinology, Diabetes and Metabolism, CHILDREN, Disease, 030105 genetics & heredity, Hypoglycemia, GUIDELINES, Biochemistry, 03 medical and health sciences, Young Adult, Endocrinology, Hepatic glycogen storage, Surveys and Questionnaires, Genetics, medicine, Glycogen storage disease, Humans, In patient, Child, Molecular Biology, TYPE-1, Aged, Safety management, business.industry, Acute complication, IA, Dietary management, Infant, III DIAGNOSIS, Middle Aged, medicine.disease, Diet, CORNSTARCH THERAPY, Liver, Child, Preschool, Female, Safety, business
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e76cea96b8ff1cc315fbf690fe6d67eb
https://doi.org/10.1016/j .ymgme.2018.07.004 -
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المؤلفون: Iris L. Rodenburg, Francjan J. van Spronsen, Esther van Dam, Charlotte M A Lubout, Marieke J Fokkert-Wilts, Diego Martinelli, Sarah C. Grünert, Tessa van Amerongen, Foekje de Boer, Frouke J. Weynschenk, Terry G J Derks, Irene J. Hoogeveen
مصطلحات موضوعية: Protocol (science), Pediatrics, medicine.medical_specialty, business.industry, Chart review, Medicine, Single Center, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1737e35df0bd17b3db1314c4d791db80
https://doi.org/10.21203/rs.2.22763/v1 -
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المؤلفون: Irene J Hoogeveen
المساهمون: van Spronsen, Francjan, Derks, Terry
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, medicine, Glycogen storage disease, Precision medicine, business, medicine.disease
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d265d8344010a412aebc8011a9ddaa83
https://research.rug.nl/en/publications/279deac0-4c60-499b-8b97-9cb0f2a647fb -
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المؤلفون: Tom J. de Koning, Francjan J. van Spronsen, Foekje de Boer, Terry G J Derks, Robert Jan Zandvoort, Sebastiaan te Boekhorst, Irene J Hoogeveen, Fabian Peeks, Charlotte M A Lubout, Rob Burghard
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Movement Disorder (MD)
المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 41(6), 929-936. SPRINGERمصطلحات موضوعية: 0301 basic medicine, Blood Glucose, Male, CLINICAL-COURSE, CHILDREN, Pilot Projects, 030105 genetics & heredity, Glycogen Storage Disease Type I, METABOLIC-CONTROL, THERAPY, Health care, Prospective Studies, Child, Genetics (clinical), System usability scale, Second opinion, Disease Management, Middle Aged, Glycogen Storage Disease, Mobile Applications, Telemedicine, Rare diseases, Child, Preschool, Female, Medical emergency, Hepatic glycogen storage diseases, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Monitoring, Adolescent, Health Personnel, Mobile application, 03 medical and health sciences, Young Adult, Genetics, medicine, MANAGEMENT, Humans, Medical prescription, Dietary management, TYPE-1, Monitoring, Physiologic, CARDIOMYOPATHY, business.industry, III DIAGNOSIS, nutritional and metabolic diseases, Usability, medicine.disease, Clinical trial, business
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المؤلفون: Marieke J Fokkert-Wilts, M. Rebecca Heiner-Fokkema, Irene J Hoogeveen, Terry G J Derks, Foekje de Boer, Ronald G H J Maatman, Jennifer van der Krogt
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Genetics in Medicine
Genetics in Medicine, 1915-1916. Nature Publishing Group
ISSUE=11;STARTPAGE=1915;ENDPAGE=1916;ISSN=1098-3600;TITLE=Genetics in Medicineمصطلحات موضوعية: medicine.medical_specialty, Glycogen Storage Disease Type II, business.industry, Urinary system, Oligosaccharides, Glycogen Storage Disease, Glucose tetrasaccharide, Endocrinology, Liver, Hepatic glycogen storage, Internal medicine, Correspondence, medicine, Humans, Biomarker (medicine), Urinary Tract, business, Biomarkers, Genetics (clinical)
وصف الملف: application/pdf
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