المؤلفون: Rubio-Gozalbo, M. E.^Aff1, Haskovic, M.^Aff1, Bosch, A. M.^Aff2, Burnyte, B.^Aff3, Coelho, A. I.^Aff1, Cassiman, D.^Aff4, Couce, M. L.^Aff5, Dawson, C.^Aff6, Demirbas, D.^Aff7, Derks, T.^Aff8, Eyskens, F.^Aff9, Forga, M. T.^Aff10, Grunewald, S.^Aff11, Häberle, J.^Aff12, Hochuli, M.^Aff13, Hubert, A.^{Aff14, Aff15}, Huidekoper, H. H.^Aff16, Janeiro, P.^Aff17, Kotzka, J.^Aff18, Knerr, I.^Aff19, Labrune, P.^{Aff14, Aff15}, Landau, Y. E.^Aff20, Langendonk, J. G.^Aff21, Möslinger, D.^Aff22, Müller-Wieland, D.^Aff23, Murphy, E.^Aff24, Õunap, K.^Aff25, Ramadza, D.^Aff26, Rivera, I. A.^Aff27, Scholl-Buergi, S.^Aff28, Stepien, K. M.^Aff29, Thijs, A.^Aff30, Tran, C.^Aff31, Vara, R.^Aff32, Visser, G.^Aff33, Vos, R.^Aff34, de Vries, M.^Aff35, Waisbren, S. E.^Aff36, Welsink-Karssies, M. M.^Aff2, Wortmann, S. B.^Aff37, Gautschi, M.^Aff38, Treacy, E. P.^{Aff20, Aff39}, Berry, G. T.^Aff7

المصدر: Orphanet Journal of Rare Diseases. 14(1)

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. SPRINGER

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519230bed6b3358163dfa7f295b559cb
https://pure.amc.nl/en/publications/a-generic-emergency-protocol-for-patients-with-inborn-errors-of-metabolism-causing-fasting-intolerance(d1b50a88-71b1-4d6d-80c9-82cbfbd9580c).html

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المؤلفون: Forny, P., Hörster, F., Ballhausen, D., Chakrapani, A., Chapman, K.A., Dionisi-Vici, C., Dixon, M., Grünert, S.C., Grunewald, S., Haliloglu, G., Hochuli, M., Honzik, T., Karall, D., Martinelli, D., Molema, F., Sass, J.O., Scholl-Bürgi, S., Tal, G., Williams, M., Huemer, M., Baumgartner, M.R.

المصدر: Journal of inherited metabolic disease, vol. 44, no. 3, pp. 566-592

مصطلحات موضوعية: diagnosis and management, guidelines, inherited metabolic disease, methylmalonic acidaemia, propionic acidaemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::a17ec7b90d39247f35247ae9ba264e7f
https://serval.unil.ch/notice/serval:BIB_859249D2C728

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المؤلفون: Hochuli M, Muri R, Trepp R, Kreis R, Abgottspon S, Rummel C, Slotboom J, Bosanska L, Everts R

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Text mining, Adult patients, business.industry, Crossover, medicine, Non inferiority trial, Phenylalanine, Cognition, business, Placebo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a2e6f21e241ff36eec283f5bc774bce
https://doi.org/10.21203/rs.2.9834/v1

المؤلفون: Rubio-Gozalbo, M E, Haskovic, M, et al, Häberle, J, Hochuli, M, Tran, C, Gautschi, M

المساهمون: University of Zurich, Rubio-Gozalbo, M E

مصطلحات موضوعية: 2716 Genetics (clinical), 10036 Medical Clinic, 10265 Clinic for Endocrinology and Diabetology, 2736 Pharmacology (medical), 610 Medicine & health

وصف الملف: 13023_2019_Article_1047.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______885::0c17fd82cf8d76c0edd517fc863a602a
https://www.zora.uzh.ch/id/eprint/171594/

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