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61كتاب
المؤلفون: Habets, D. D. J., Schaper, N. C., Rogozinski, H., van Spronsen, F. J., van Rijn, M., Bierau, J., Bakker, J. A.
المصدر: JIMD Reports ; JIMD Reports - Case and Research Reports, 2011/3 ; page 83-89 ; ISSN 2192-8304 2192-8312 ; ISBN 9783642249358 9783642249365
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62دورية أكاديمية
المؤلفون: Blau N, Bélanger Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F, European PKU centers, CERONE, ROBERTO
المساهمون: Blau, N, Bélanger Quintana, A, Demirkol, M, Feillet, F, Giovannini, M, Macdonald, A, Trefz, Fk, van Spronsen, F, Cerone, Roberto, European PKU, Centers
وصف الملف: ELETTRONICO
العلاقة: volume:99(2); firstpage:109; lastpage:115; journal:MOLECULAR GENETICS AND METABOLISM; http://hdl.handle.net/11567/587547Test
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63
المؤلفون: Hollak, C. E. M., van Spronsen, F. J., vom Dahl, S., Lammert, F., Ullrich, K., Wendel, U.
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology
المصدر: Angeborene Stoffwechselkrankheiten bei Erwachsenen, 47-53
STARTPAGE=47;ENDPAGE=53;TITLE=Angeborene Stoffwechselkrankheiten bei Erwachsenenالوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::60d1de5a28aea7c5ea36786594be9913Test
https://pure.amc.nl/en/publications/transitionsmedizin-in-den-niederlandenTest(dec4755c-2606-4274-892c-4a49a08b34e1).html -
64مؤتمر
العلاقة: Journal of Inherited Metabolic Disease vol:28 pages:197-197; SSIEM 42st Annual Symposium location:Paris, France date:September 6-9, 2005; https://lirias.kuleuven.be/handle/123456789/251338Test
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65دورية أكاديمية
المؤلفون: Keil, S., Anjema, K., van Spronsen, F., Lambruschini, N., Burlina, A., Belanger-Quintana, A., Couce, L., Feillet, F., Cerone, R., Lotz-Havla, A., Muntau, C., Bosch, M., Meli, C., Billette de Villemeur, T., Kern, I., Riva, E., Giovannini, M., Damaj, L., Leuzzi, V., Blau, N.
المساهمون: University Children’s Hospital Zurich, Regensburg University Medical Center, Beatrix Children's Hospital/University Medical Center Groningen, Hospital Sant Joan de Déu Barcelona, Division of Inherited Metabolic Diseases Padua, Università degli Studi di Padova = University of Padua (Unipd), Hospital Universitario Ramón y Cajal Madrid, Universidad de Alcalá - University of Alcalá (UAH), Complejo Hospitalario Universitario de Santiago de Compostela Saint-Jacques-de-Compostelle, Espagne (CHUS), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), IRCCS Istituto Giannina Gaslini, Genova, Dr von Hauner Children's Hospital Munich, Germany, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Emma Children's Hospital, Academic Medical Center, University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Policlinico University Hospital Catania, Service: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), Geneva University Hospital (HUG), Pneumologia Ospedale San Paolo, Università degli Studi di Milano = University of Milan (UNIMI), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Department of Pediatrics Sapienza Roma, Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA), University Children's Hospital Heidelberg, Center for Child Well-Being and Development (CCWD), Universität Zürich Zürich = University of Zurich (UZH)
المصدر: ISSN: 0031-4005.
مصطلحات موضوعية: BH4, Hyperphenylalaninemia, Pharmacological treatment, PKU, Tetrahydrobiopterin, [SDV]Life Sciences [q-bio]
العلاقة: hal-01704390; https://hal.univ-lorraine.fr/hal-01704390Test
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66دورية أكاديمية
المؤلفون: MacDonald, A., van Rijn, M., Feillet, F., Lund, A. M., Bernstein, L., Bosch, A. M., Gizewska, M., van Spronsen, F. J.
المصدر: MacDonald , A , van Rijn , M , Feillet , F , Lund , A M , Bernstein , L , Bosch , A M , Gizewska , M & van Spronsen , F J 2012 , ' Adherence Issues in Inherited Metabolic Disorders Treated by Low Natural Protein Diets ' , Annals of nutrition and metabolism , vol. 61 , no. 4 , pp. 289-295 . https://doi.org/10.1159/000342256Test
مصطلحات موضوعية: Adherence, Amino acids, Dietary management, Inborn errors of metabolism, Phenylketonuria, Urea cycle disorders, BETA-SYNTHASE DEFICIENCY, SUSTAINED ATTENTION, CHILDREN, PHENYLALANINE, ADOLESCENTS, MANAGEMENT, CHILDHOOD, QUALITY
الإتاحة: https://doi.org/10.1159/000342256Test
https://hdl.handle.net/11370/b5bdbaf2-3662-415c-9127-410a92488937Test
https://research.rug.nl/en/publications/b5bdbaf2-3662-415c-9127-410a92488937Test -
67دورية أكاديمية
المؤلفون: van Spronsen, F. J., Huijbregts, S. C. J., Bosch, A. M., Leuzzi, V.
المصدر: van Spronsen , F J , Huijbregts , S C J , Bosch , A M & Leuzzi , V 2011 , ' Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients : A start toward standardized outcome measurement across development ' , Molecular Genetics and Metabolism , vol. 104 , pp. S45-S51 . https://doi.org/10.1016/j.ymgme.2011.09.036Test
مصطلحات موضوعية: Phenylalanine, Neurophysiological, Neurological, Neuropsychological, Quality of life, Psychosocial, VISUAL-EVOKED-POTENTIALS, QUALITY-OF-LIFE, BARRIER PHENYLALANINE TRANSPORT, WHITE-MATTER ABNORMALITIES, EVENT-RELATED POTENTIALS, EXECUTIVE FUNCTION, WORKING-MEMORY, ADULT PATIENTS, NEUROPSYCHOLOGICAL TESTS, PHENYLKETONURIA PATIENTS
الإتاحة: https://doi.org/10.1016/j.ymgme.2011.09.036Test
https://hdl.handle.net/11370/9ea4cab4-96ce-4dbf-8494-91ae125faa13Test
https://research.rug.nl/en/publications/9ea4cab4-96ce-4dbf-8494-91ae125faa13Test -
68دورية أكاديمية
المؤلفون: Anjema, K., Venema, G., Hofstede, F. C., Weber, E. C. Carbasius, Bosch, A. M., Ter Horst, N. M., Hollak, C. E. M., Jonkers, C. F., Rubio-Gozalbo, M. E., van der Ploeg, E. M. C., de Vries, M. C., Janssen-Regelink, R. G., Janssen, M. C. H., Essen, H. Zweers-van, Boelen, C. C. A., van der Herberg-van de Wetering, N. A. P., Heiner-Fokkema, Rebecca, van Rijn, M., van Spronsen, F. J.
المصدر: Anjema , K , Venema , G , Hofstede , F C , Weber , E C C , Bosch , A M , Ter Horst , N M , Hollak , C E M , Jonkers , C F , Rubio-Gozalbo , M E , van der Ploeg , E M C , de Vries , M C , Janssen-Regelink , R G , Janssen , M C H , Essen , H Z , Boelen , C C A , van der Herberg-van de Wetering , N A P , Heiner-Fokkema , R , van Rijn , ....
مصطلحات موضوعية: Phenylketonuria, PKU, Tetrahydrobiopterin, BH4, Sapropterin, Phenylalanine, HYDROXYLASE DEFICIENCY, RESPONSIVE PHENYLKETONURIA, MOLECULAR-GENETICS
الإتاحة: https://doi.org/10.1016/j.ymgme.2011.09.024Test
https://hdl.handle.net/11370/bd227b37-05d2-47df-852e-fbb832c06335Test
https://research.rug.nl/en/publications/bd227b37-05d2-47df-852e-fbb832c06335Test -
69دورية أكاديمية
المؤلفون: Mohamed, M., Guillard, M., Wortmann, S. B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F. J., Niezen-Koning, K. E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R. A., Lefeber, D. J., Morava, E.
المصدر: Mohamed , M , Guillard , M , Wortmann , S B , Cirak , S , Marklova , E , Michelakakis , H , Korsch , E , Adamowicz , M , Koletzko , B , van Spronsen , F J , Niezen-Koning , K E , Matthijs , G , Gardeitchik , T , Kouwenberg , D , Lim , B C , Zeevaert , R , Wevers , R A , Lefeber , D J & Morava , E 2011 , ' Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern ....
مصطلحات موضوعية: CDG type 2, CDG-IIx, Golgi-system, Hearing loss, Seizure, TIEF, Copper metabolism, OLIGOMERIC GOLGI-COMPLEX, CONGENITAL CUTIS LAXA, O-GLYCAN BIOSYNTHESIS, GLYCOSYLATION (CDG)-IIX, ALTERED GLYCOSYLATION, DEFICIENCY REVEALS, BRAIN DYSGENESIS, DEBRE TYPE, DISORDER, MUTATION
الإتاحة: https://doi.org/10.1016/j.bbadis.2011.02.011Test
https://hdl.handle.net/11370/2d309bde-49c2-402c-b64f-38f2c461f35fTest
https://research.rug.nl/en/publications/2d309bde-49c2-402c-b64f-38f2c461f35fTest -
70دورية أكاديمية
المؤلفون: Veldman, A., Hennermann, J. B., Schwarz, G., van Spronsen, F., Weis, I., Wong, F. Y., Schwahn, B.C.
العلاقة: Veldman, A., Hennermann, J. B., Schwarz, G., van Spronsen, F., Weis, I., Wong, F. Y. and Schwahn, B.C. (2011) Timing of cerebral developmental disruption in molybdenum cofactor deficiency. Journal of Child Neurology , 26(8), pp. 1059-1060. (doi:10.1177/0883073811415851 )
