المؤلفون: Curic, E., Ewans, L., Pysar, R., Taylan, F., Botto, L. D., Nordgren, Ann, 1964, Gahl, W., Palmer, E. E.

المصدر: Orphanet Journal of Rare Diseases. 18(1)

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Undiagnosed Diseases Programs, Rare diseases, Genomics

URL الوصول: https://gup.ub.gu.se/publication/332112

المؤلفون: Feldkamp, M L^{Aff1, IDjp2015115_cor1}, Enioutina, E Y, Botto, L D, Krikov, S, Byrne, J L B^{Aff1, Aff2}, Geisler, W M

المصدر: Journal of Perinatology. 35(11):930-934

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

المؤلفون: Day, R. W., Mack, G. K., Barker, A. M., Rees, T. Q., Jorgensen, L. O., Botto, L. D.

المصدر: Pediatric Cardiology. March 2015 36(3):524-530

المؤلفون: Helbig, K. L., Lauerer, R. J., Bahr, J. C., Souza, I. A., Myers, C. T., Uysal, B., Schwarz, N., Gandini, M. A., Huang, S., Keren, B., Mignot, C., Afenjar, A., de Villemeur, T. B., Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C. R., Soerensen, K. P., Kibaek, M., Kamsteeg, E. J., Koolen, D. A., Gunning, B., Schelhaas, H. J., Kruer, M. C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S. C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q. H., Zhu, Changlian, 1964, Boysen, K., Vairo, F., Lanpher, B. C., Klee, E. W., Tillema, J. M., Payne, E. T., Cousin, M. A., Kruisselbrink, T. M., Wick, M. J., Baker, J., Haan, E., Smith, N., Corbett, M. A., MacLennan, A. H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L. H., Kichula, E., Segal, E., Jackson, K. E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L. D., Filloux, F., Tvrdik, T., Cascino, G. D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J. C., Nolan, M. A., Snell, R. G., Lehnert, K., Sadleir, L. G., Anderlid, B. M., Kvarnung, M., Guerrini, R., Friez, M. J., Lyons, M. J., Leonhard, J., Kringlen, G., Casas, K., El Achkar, C. M., Smith, L. A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K. J., Rankin, J., Zeman, A., Raymond, F. L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U. B. S., Scheffer, I. E., Helbig, I., Zamponi, G. W., Lerche, H., Mefford, H. C., Deciphering Dev Disorders, Study

المصدر: American Journal of Human Genetics. 103(5):666-678

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, calcium-channel dysfunction, r-type, molecular pathology, ilae, commission, position paper, ca2+ channels, mice lacking, disorders, mutations, classification, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/273681

المؤلفون: Pekkinen, M., Terhal, P. A., Botto, L. D., Henning, Petra, 1974, Makitie, R. E., Roschger, P., Jain, A., Kol, M., Kjellberg, M. A., Paschalis, E. P., van Lassen, K., Murray, M., Bayrak-Toydemir, P., Magnusson, Maria K, 1972, Jans, J., Kausar, M., Carey, J. C., Somerharju, P., Lerner, Ulf H, Olkkonen, V. M., Klaushofer, K., Holthuis, J. C. M., Makitie, O.

المصدر: Jci Insight. 4(7)

مصطلحات موضوعية: Orthopedics, Ortopedi, mineralization density distribution, calvarial doughnut lesions, relative quantification, normative data, sphingomyelin, osteogenesis, metabolism, mutations, sphingosine-1-phosphate, osteopetrosis

URL الوصول: https://gup.ub.gu.se/publication/280026

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Botto, Lorenzo D., Loffredo, Christopher, Scanlon, Kelley S., Ferencz, Charlotte, Khoury, Muin J., David Wilson, P., Correa, Adolfo, Botto, L D, Loffredo, C, Scanlon, K S, Ferencz, C, Khoury, M J, Correa, A

المصدر: Epidemiology; Sep2001, Vol. 12 Issue 5, p491-496, 6p