المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ

المصدر: Orphanet journal of rare diseases. 15(1):3

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143042857Test

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/

الإتاحة: 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/

المؤلفون: Wagner, L., Sestini, S., Brown, C., Finglas, A., Francisco, R., Bond, S., Lampe, C., Belettato, C., Van Lingen, C., Scarpa, M.

المصدر: Annals of the Rheumatic Diseases ; volume 80, issue Suppl 1, page 168.2-168 ; ISSN 0003-4967 1468-2060

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, Immunology, Immunology and Allergy, Rheumatology

الإتاحة: https://doi.org/10.1136/annrheumdis-2021-eular.3372Test

المؤلفون: Lampe, C., Dionisi-Vici, C., Bellettato, C. M., Paneghetti, L., van Lingen, C., Bond, S., Brown, C., Finglas, A., Francisco, R., Sestini, S., Heard, J. M., Scarpa, M.

المساهمون: European Commission

المصدر: Orphanet Journal of Rare Diseases ; volume 15, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-020-01619-xTest

المؤلفون: Heard, J-M, Vrinten, C, Schlander, M, Bellettato, CM, Van Lingen, C, Scarpa, M, MetabERN collaboration group

مصطلحات موضوعية: Access to treatment, European Reference Network, Hereditary Metabolic Diseases, Inborn errors of metabolism, Orphan medicinal product, MetabERN collaboration group, Genetics & Heredity, 1199 Other Medical and Health Sciences

جغرافية الموضوع: England

العلاقة: Orphanet Journal of Rare Diseases; http://hdl.handle.net/10044/1/76417Test

الإتاحة: https://doi.org/10.1186/s13023-019-1280-5Test
http://hdl.handle.net/10044/1/76417Test

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

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

المؤلفون: Stepien K. M., Kiec-Wilk B., Lampe C., Tangeraas T., Cefalo G., Belmatoug N., Francisco R., del Toro M., Wagner L., Lauridsen A. -G., Sestini S., Weinhold N., Hahn A., Montanari C., Rovelli V., Bellettato C. M., Paneghetti L., van Lingen C., Scarpa M.

المساهمون: Stepien, K. M., Kiec-Wilk, B., Lampe, C., Tangeraas, T., Cefalo, G., Belmatoug, N., Francisco, R., del Toro, M., Wagner, L., Lauridsen, A. -G., Sestini, S., Weinhold, N., Hahn, A., Montanari, C., Rovelli, V., Bellettato, C. M., Paneghetti, L., van Lingen, C., Scarpa, M.

مصطلحات موضوعية: adult metabolic patient, adulthood (18 years and older), challenge, continuity of care, inherited metabolic disease(s), rare disease, transition process

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000629292700001; volume:8; journal:FRONTIERS IN MEDICINE; https://hdl.handle.net/11577/3486179Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102786125

الإتاحة: https://doi.org/10.3389/fmed.2021.652358Test
https://hdl.handle.net/11577/3486179Test

المؤلفون: Fryns, J P, Van Lingen, C, Devriendt, K, Legius, E, Raus, P

مصطلحات موضوعية: Research Article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/35/4/333Test; http://dx.doi.org/10.1136/jmg.35.4.333Test

الإتاحة: https://doi.org/10.1136/jmg.35.4.333Test
http://jmg.bmj.com/cgi/content/short/35/4/333Test

المؤلفون: Van Lingen, C., Vogels, Annick, Swillen, Ann, Vantrappen, Greet, Devriendt, Koenraad, Fryns, Jean-Pierre

العلاقة: Signaal: journaal van de Stichting integratie gehandicapten vol:28 pages:79-25; https://lirias.kuleuven.be/handle/123456789/145967Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/145967Test

المؤلفون: Fryns, Jean-Pierre, Van Lingen, C, Devriendt, Koenraad, Legius, Eric, Raus, P

مصطلحات موضوعية: Abnormalities, Multiple, Adult, Ataxia, Facies, Female, Genetic Diseases, Inborn, Humans, Hypogonadism, Mental Retardation, Middle Aged, Muscle Hypotonia, Retinal Degeneration, Syndrome

العلاقة: Journal of Medical Genetics vol:35 issue:4 pages:333-5; https://lirias.kuleuven.be/handle/123456789/9306Test

الإتاحة: https://lirias.kuleuven.be/handle/123456789/9306Test