المؤلفون: Annieke Venema, Fabian Peeks, Marlies deBruijn‐van der Veen, Foekje deBoer, Marieke J. Fokkert‐Wilts, Charlotte M. A. Lubout, Bibi Huskens, Eric Dumont, Sandra Mulkens, Terry G. J. Derks

المصدر: JIMD Reports, Vol 63, Iss 1, Pp 29-40 (2022)

مصطلحات موضوعية: Avoidant/Restrictive Food Intake Disorder, dietary treatment, eating problems, glycogen storage disease, patient‐reported outcome measures, quality of life, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/2a4e7ff12ed04a0580d7280fc7f68574

المؤلفون: Martijn P.D. Haring, Fabian Peeks, Maaike H. Oosterveer, Martijn C.G.J. Brouwers, Carla E.M. Hollak, Mirian C.H. Janssen, Janneke G. Langendonk, Alexander J.M. Rennings, Margreet A.E.M. Wagenmakers, Henkjan J. Verkade, Terry G.J. Derks, Vincent E. de Meijer

المصدر: JHEP Reports, Vol 4, Iss 8, Pp 100512- (2022)

مصطلحات موضوعية: Benign neoplasm, Hepatic adenoma, Glycogen storage disease type Ia, Metabolic disorder, Glucose-6-phosphatase triglycerides, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555922000842; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/c6cb44c1113f4e3fbd9c89e7b4f0c7d6

المؤلفون: Annieke Venema, Fabian Peeks, Alessandro Rossi, Emmalie A. Jager, Terry G. J. Derks

المساهمون: Venema, Annieke, Peeks, Fabian, Rossi, Alessandro, Jager, Emmalie A, Derks, Terry G J, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Inherited Metabolic Disease, 45(6), 1018-1027. SPRINGER

مصطلحات موضوعية: Liver, Muscular Diseases, value-based healthcare, Fatty Acids, Genetics, Humans, inborn errors of metabolism, Acidosis, Glycogen Storage Disease, Delivery of Health Care, Genetics (clinical), fatty acid oxidation, Lipid Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f2de9d0cc3bac03ca34f46946ff5b65
https://pubmed.ncbi.nlm.nih.gov/36088581

المؤلفون: Lut de Baere, Katherine Cowan, Marcus Landgren, Thomas Casswall, Niccolò Seidita, Iris A. Ferrecchia, Alberto Ferriani, Caroline Gimbert, Willemijn F Boonstra, Fabian Peeks, Terry G J Derks, Camilla Carøe, Nerea López Maldonado, Damián Cohen, Jason McMillan, David A. Weinstein, Antal Nemeth, Ute Stachelhaus-Theimer

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(2), 279-289. SPRINGER

مصطلحات موضوعية: Prioritization, caregivers, priority setting partnership, Biomedical Research, Consensus, Health Personnel, 03 medical and health sciences, Resource (project management), Political science, Genetics, Humans, Cooperative Behavior, Patient participation, Genetics (clinical), 030304 developmental biology, liver glycogen storage diseases, 0303 health sciences, Medical education, Priority setting, research, Health professionals, Health Priorities, 030305 genetics & heredity, rare diseases, Nominal group, Original Articles, Glycogen Storage Disease, Health Surveys, United Kingdom, Alliance, Liver, research priorities, General partnership, Original Article, James Lind Alliance, patient participation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4578244ff3acaa681c12b78b9458458a
https://research.rug.nl/en/publications/73241fa9-5e9d-4a71-8cb4-9e00acbc17f3

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 Disease

مصطلحات 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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702b3d4c3292c874dfc1d07c14fee9c9
https://research.rug.nl/en/publications/f2790862-2982-4c9f-ba55-f8614aa7fb7f

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

المؤلفون: Folkert Kuipers, Amanda C. M. Pronk, Gilles Mithieux, Karen van Eunen, Trijnie Bos, Dirk-Jan Reijngoud, Sander Kooijman, Terry G J Derks, Joanne A Hoogerland, Fabian Peeks, Henk Wolters, Theo H. van Dijk, Albert Gerding, Aycha Bleeker, Rick Havinga, Brenda S. Hijmans, Patrick C.N. Rensen, Maaike H. Oosterveer, Fabienne Rajas, Justina C. Wolters

المساهمون: University of Groningen [Groningen], University Medical Center Groningen [Groningen] (UMCG), Leiden University Medical Center (LUMC), Nutrition, diabète et cerveau (NUDICE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lyon, Di Carlo, Marie-Ange, Center for Liver, Digestive and Metabolic Diseases (CLDM), Nutrition, diabète et cerveau

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2021, Online ahead of print. ⟨10.1002/jimd.12380⟩
Journal of Inherited Metabolic Disease, 44(4). SPRINGER
Journal of Inherited Metabolic Disease, 44(4), 879-892. WILEY

مصطلحات موضوعية: Male, Very low-density lipoprotein, Adipose tissue, Glycogen Storage Disease Type I, Lipoproteins, VLDL, Mice, 0302 clinical medicine, Glycogen storage disease, Genetics (clinical), 0303 health sciences, hepatic steatosis, metabolic control, Middle Aged, 3. Good health, Glycogen Storage Disease type Ia, Glucose-6-Phosphatase, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Original Article, Adult, medicine.medical_specialty, hypertriglyceridemia, Hypoglycemia, 03 medical and health sciences, Internal medicine, Genetics, medicine, Lipolysis, Animals, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Triglycerides, 030304 developmental biology, Aged, business.industry, Catabolism, Hypertriglyceridemia, nutritional and metabolic diseases, Original Articles, medicine.disease, Lipid Metabolism, Fatty Liver, Disease Models, Animal, Endocrinology, Glucose, translational research, Hepatocytes, business, 030217 neurology & neurosurgery, Dyslipidemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d2e70557e685d57e656dfad5f52ad8b
https://pubmed.ncbi.nlm.nih.gov/33739445

المؤلفون: Edyta Szymańska, Marieke J Fokkert-Wilts, Foekje de Boer, Patrick T Ryan, David A. Weinstein, Marius C. van den Heuvel, Fabian Peeks, Terry G J Derks, Hubert P. J. van der Doef, Dariusz Rokicki

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(3), 693-704. SPRINGER

مصطلحات موضوعية: Male, glycogen storage disease type IV, Cirrhosis, medicine.medical_treatment, VARIANT, Liver transplantation, Gastroenterology, THERAPY, chemistry.chemical_compound, Glucose homeostasis, Glycogen storage disease, Glycogen storage disease type IV, Child, CIRRHOSIS, Genetics (clinical), 0303 health sciences, Glycogen, liver transplantation, 030305 genetics & heredity, MOUSE MODEL, LIVER-TRANSPLANTATION, DEFICIENCY, Treatment Outcome, Liver, Child, Preschool, Female, Original Article, Adult, medicine.medical_specialty, BRANCHING ENZYME-ACTIVITY, Adolescent, 03 medical and health sciences, Young Adult, glycogen storage disease, dietary intervention, Internal medicine, Genetics, medicine, Humans, inherited metabolic disease, 030304 developmental biology, business.industry, nutritional and metabolic diseases, Infant, Original Articles, medicine.disease, chemistry, Metabolic control analysis, Dietary Supplements, Interdisciplinary Communication, Liver function, business, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a20fbe1b5fd1c2dc7bec27bdecd650
https://pubmed.ncbi.nlm.nih.gov/33332610

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. SPRINGER

مصطلحات 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

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5650b57b2a5f665b346a1f0e27a47aa9
http://europepmc.org/articles/PMC6326981

المؤلفون: Maaike H. Oosterveer, Rob Burghard, Fabian Peeks, Fabienne Rajas, Thomas A. H. Steunenberg, Terry G J Derks, Monique Williams, David A. Weinstein, Foekje de Boer, M. Estela Rubio-Gozalbo

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, University Medical Center Groningen [Groningen] (UMCG), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Erasmus University Rotterdam, EnerGQcare BV [Groningen], Nutrition, diabète et cerveau (NUDICE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Connecticut School of Medicine, University of Connecticut (UCONN), Connecticut Children's Medical Center, Di Carlo, Marie-Ange, Nutrition, diabète et cerveau, Pediatrics

المصدر: Journal of Inherited Metabolic Disease, 40(5), 695-702. SPRINGER
Journal of Inherited Metabolic Disease, 40(5), 695-702. Wiley
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2017, 40 (5), pp.695-702. ⟨10.1007/s10545-017-0039-1⟩
Journal of Inherited Metabolic Disease, 40(5), 695-702. Springer Netherlands

مصطلحات موضوعية: Male, 0301 basic medicine, G6PC, Glycogen Storage Disease Type I, 030105 genetics & heredity, chemistry.chemical_compound, Genotype, CUSUM, Longitudinal Studies, Child, Genetics (clinical), ESGSDI, Glycogen storage disease type I, GLUCOSE-6-PHOSPHATASE GENE, Homozygote, Cholesterol, Child, Preschool, Glucose-6-Phosphatase, INFANCY, Female, Original Article, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Adult, medicine.medical_specialty, Adolescent, GLUCOSE-PRODUCTION, Biology, Carbohydrate metabolism, Nephropathy, Young Adult, 03 medical and health sciences, G6PC GENE, Internal medicine, Genetics, medicine, Modifying factors, Humans, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Triglycerides, Retrospective Studies, Triglyceride, MUTATIONS, nutritional and metabolic diseases, medicine.disease, Endocrinology, chemistry, Metabolic control analysis, Mutation, Uric acid, GSD Ia, Heterogeneity, 1A

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::044b9958ef9974b9063035e49273c0f9
https://research.rug.nl/en/publications/0d43a3f9-a916-4e4f-a50d-72de23c54dd8