المؤلفون: van Vliet, K., Dijkstra, A. M., Bouva, M. J., van der Krogt, J., Bijsterveld, K., van der Sluijs, F., de Sain-van der Velden, M. G., Koop, K., Rossi, A., Thomas, J. A., Patera, C. A., Kiewiet, M. B.G., Waters, P. J., Cyr, D., Boelen, A., van Spronsen, F. J., Heiner-Fokkema, M. R.

المساهمون: Genetica Sectie Metabole Diagnostiek, Child Health, Metabole ziekten patientenzorg

مصطلحات موضوعية: maleic acid, maleylacetoacetate isomerase deficiency, newborn screening, succinylacetone, tyrosinemia type 1, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/449680Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/449680Test

المؤلفون: Evers, R. A.F., van Wegberg, A. M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S. C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A., van Spronsen, F. J.

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

مصطلحات موضوعية: International, Phenylketonuria, Survey, Tetrahydrobiopterin, Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetics, SDG 3 - Good Health and Well-being

العلاقة: PURE: 28379311; PURE UUID: f224e791-029d-48cb-abba-34d077a78ae8; Scopus: 85101111937; WOS: 000631172600002; PubMed: 33610470; http://hdl.handle.net/10362/147433Test; https://doi.org/10.1016/j.ymgme.2021.01.013Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2021.01.013Test
http://hdl.handle.net/10362/147433Test

المؤلفون: Haijes, H A, Molema, F, Langeveld, M, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Langendonk, J G, Williams, M, van Hasselt, P M

المساهمون: Genetica Sectie Metabole Diagnostiek, Cancer, Child Health, Cluster C, Metabole ziekten patientenzorg

مصطلحات موضوعية: methylmalonic acidemia, MMA, NBS, newborn screening, PA, propionic acidemia, Genetics(clinical), Genetics, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/439150Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/439150Test

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: MacDonald, A., Ahring, K., Almeida, M.F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A.S., Kamieńska, E., Maillot, F., Lammardo, A.M., Muntau, A.C., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F.K., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.

المصدر: Molecular Genetics and Metabolism ; volume 116, issue 4, page 242-251 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2015.10.001Test
https://api.elsevier.com/content/article/PII:S1096719215300597?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719215300597?httpAccept=text/plainTest

المؤلفون: Evers, R. A.F., van Wegberg, A. M.J., Ahring, K., Beblo, S., Bélanger-Quintana, A., Bosch, A. M., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Giżewska, M., Huijbregts, S. C.J., Kearney, S., Langeveld, M., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F. K., MacDonald, A., van Spronsen, F. J.

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), RUN

مصطلحات موضوعية: International, Phenylketonuria, Survey, Tetrahydrobiopterin, Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetics, Endocrinology, SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: 1096-7192; PURE: 28379311

الإتاحة: http://hdl.handle.net/10362/147433Test

المؤلفون: Nenad Blau, M. J. de Groot, van FrancJan Spronsen, Marieke Hoeksma, Dirk Reijngoud

المساهمون: University of Zurich, van Spronsen, F J

المصدر: Molecular genetics and metabolism. 99

مصطلحات موضوعية: 1303 Biochemistry, Endocrinology, Diabetes and Metabolism, Phenylalanine, PREFRONTAL CORTEX, Biochemistry, Pathogenesis, chemistry.chemical_compound, Endocrinology, Cognition, Phenylketonurias, Medicine, Phenylketonuria, Neurotransmitter synthesis, Prefrontal cortex, Neurotransmitter, biology, GENETIC MOUSE MODEL, 1310 Endocrinology, 2712 Endocrinology, Diabetes and Metabolism, medicine.anatomical_structure, Amino Acids, Neutral, Blood-Brain Barrier, PKU, PROTEIN-SYNTHESIS, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cerebral protein synthesis, Phenylalanine hydroxylase, Amino acid transport, NEUTRAL AMINO-ACIDS, 610 Medicine & health, PKU MOUSE, Blood–brain barrier, DIETARY-TREATMENT, 1311 Genetics, Internal medicine, 1312 Molecular Biology, Genetics, Humans, Molecular Biology, business.industry, BLOOD-BRAIN-BARRIER, PHENYLALANINE CONCENTRATIONS, nutritional and metabolic diseases, Mental retardation, EARLY-TREATED PHENYLKETONURIA, TRANSPORT, Dietary treatment, chemistry, 10036 Medical Clinic, biology.protein, business, Cognition Disorders

وصف الملف: de_Groot_MolGenMetab_2010_V.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::807d38a42c175b98a0f9a70e11f793e9Test
https://pubmed.ncbi.nlm.nih.gov/20123477Test