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1دورية أكاديمية
المؤلفون: Rossi, A, Hoogeveen, IJ, Lubout, CMA, de Boer, F, Fokkert-Wilts, MJ, Rodenburg, IL, van Dam, E, Grünert, SC, Martinelli, D, Scarpa, M, Dekker, H, te Boekhorst, ST, van Spronsen, FJ, Derks, TGJ, de Baere, L, Bellettato, C, Bosch, AM, Sallago, JB, Botto, LD, Brunner-Krainz, M, Carøe, C, Casswall, T, Contreras Pulido, EL, Couce, ML, Dessein, AF, Donati, MA, Eyskens, F, Moura De Souza, CF, Fraile, PQ, Fuchs, SA, Gasperini, S, Haas, D, Hernández, EM, Hochuli, M, Hugon, A, Karall, D, Koeberl, D, Labrune, P, Lajic, S, van Lingen, C, Maiorana, A, Mention, K, Moenig, I, Mohnike, K, Montanari, C, Nassogne, MC, Parini, R, Rahman, S, Reyes, M, Schwantje, M, Skouma, A, Strisciuglio, P, Thiel, M, Weinstein, D, Ziagaki, A
المصدر: Journal of Inherited Metabolic Disease , 44 (5) pp. 1124-1135. (2021)
مصطلحات موضوعية: eHealth, emergency treatment, fatty acid oxidation disorders, glycogen storage diseases, hypoglycemia, telemedicine
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10149887/1/J%20of%20Inher%20Metab%20Disea%20-%202021%20-%20Rossi%20-%20A%20generic%20emergency%20protocol%20for%20patients%20with%20inborn%20errors%20of%20metabolism%20causing.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10149887Test/
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المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.
المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831
مصطلحات موضوعية: Neurology, Neurologi, Pediatrics, Pediatrik, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine
الوصول الحر: https://gup.ub.gu.se/publication/316437Test
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المؤلفون: Rossi A., Hoogeveen I. J., Lubout C. M. A., de Boer F., Fokkert-Wilts M. J., Rodenburg I. L., van Dam E., Grunert S. C., Martinelli D., Scarpa M., Dekker H., te Boekhorst S. T., van Spronsen F. J., Derks T. G. J., de Baere L., Bellettato C., Bosch A. M., Sallago J. B., Botto L. D., Brunner-Krainz M., Caroe C., Casswall T., Contreras Pulido E. L., Couce M. L., Dessein A. -F., Donati M. A., Eyskens F., Moura De Souza C. F., Fraile P. Q., Fuchs S. A., Gasperini S., Haas D., Hernandez E. M., Hochuli M., Hugon A., Karall D., Koeberl D., Labrune P., Lajic S., van Lingen C., Maiorana A., Mention K., Moenig I., Mohnike K., Montanari C., Nassogne M. -C., Parini R., Rahman S., Reyes M., Schwantje M., Skouma A., Strisciuglio P., Thiel M., Weinstein D., Ziagaki A.
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Center for Liver, Digestive and Metabolic Diseases (CLDM), Rossi, A., Hoogeveen, I. J., Lubout, C. M. A., de Boer, F., Fokkert-Wilts, M. J., Rodenburg, I. L., van Dam, E., Grunert, S. C., Martinelli, D., Scarpa, M., Dekker, H., te Boekhorst, S. T., van Spronsen, F. J., Derks, T. G. J., de Baere, L., Bellettato, C., Bosch, A. M., Sallago, J. B., Botto, L. D., Brunner-Krainz, M., Caroe, C., Casswall, T., Contreras Pulido, E. L., Couce, M. L., Dessein, A. -F., Donati, M. A., Eyskens, F., Moura De Souza, C. F., Fraile, P. Q., Fuchs, S. A., Gasperini, S., Haas, D., Hernandez, E. M., Hochuli, M., Hugon, A., Karall, D., Koeberl, D., Labrune, P., Lajic, S., van Lingen, C., Maiorana, A., Mention, K., Moenig, I., Mohnike, K., Montanari, C., Nassogne, M. -C., Parini, R., Rahman, S., Reyes, M., Schwantje, M., Skouma, A., Strisciuglio, P., Thiel, M., Weinstein, D., Ziagaki, A.
المصدر: Journal of inherited metabolic disease, 44(5), 1124-1135. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 44(5), 1124-1135. SPRINGERمصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Telemedicine, Adolescent, fatty acid oxidation disorders, glycogen storage diseases, eHealth, emergency treatment, hypoglycemia, telemedicine, Lipid Metabolism, Inborn Error, Context (language use), Hypoglycemia, Glycogen Storage Disease Type I, Single Center, Lipid Metabolism, Inborn Errors, Young Adult, glycogen storage disease, Retrospective Studie, Genetics, Medicine, Humans, Adverse effect, Child, Genetics (clinical), Retrospective Studies, Coma, business.industry, Fatty Acids, Infant, Newborn, Infant, Original Articles, Fasting, Middle Aged, medicine.disease, fatty acid oxidation disorder, Child, Preschool, Emergency medicine, Observational study, Original Article, Female, medicine.symptom, business, Oxidation-Reduction, Fatty Acid, Human
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519230bed6b3358163dfa7f295b559cbTest
https://pure.amc.nl/en/publications/a-generic-emergency-protocol-for-patients-with-inborn-errors-of-metabolism-causing-fasting-intoleranceTest(d1b50a88-71b1-4d6d-80c9-82cbfbd9580c).html -
4دورية أكاديمية
المؤلفون: Schwantje, M., Fuchs, Sabine A., Boer, L. de, Bosch, A.M., Cuppen, I., Dekkers, E., Derks, T.G., Ferdinandusse, S., Ijlst, L., Houtkooper, R.H., Maase, R., Pol, W.Ludo van der, Vries, M.C. de, Verschoof-Puite, R.K., Wanders, R.J., Williams, M., Wijburg, F., Visser, G.
المصدر: Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818
مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/283151/283151.pdfTest; https://repository.ubn.ru.nl/handle/2066/283151Test; https://doi.org/10.1002/jimd.12502Test
الإتاحة: https://doi.org/10.1002/jimd.12502Test
https://repository.ubn.ru.nl//bitstream/handle/2066/283151/283151.pdfTest
https://repository.ubn.ru.nl/handle/2066/283151Test