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1دورية أكاديمية
المؤلفون: Stolwijk, N N, Bosch, A M, Bouwhuis, N, Häberle, Johannes, van Karnebeek, C, van Spronsen, F J, Langeveld, M, Hollak, C E M
المصدر: Stolwijk, N N; Bosch, A M; Bouwhuis, N; Häberle, Johannes; van Karnebeek, C; van Spronsen, F J; Langeveld, M; Hollak, C E M (2023). Food or medicine? A European regulatory perspective on nutritional therapy products to treat inborn errors of metabolism. Journal of Inherited Metabolic Disease, 46(6):1017-1028.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, European Union, food supplements, foods for special medical purposes, inborn errors of metabolism, medical food, nutritional therapy
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest; info:pmid/37650776; urn:issn:0141-8955
الإتاحة: https://doi.org/10.5167/uzh-25323910.1002/jimd.12677Test
https://www.zora.uzh.ch/id/eprint/253239Test/
https://www.zora.uzh.ch/id/eprint/253239/1/ZORA_253239.pdfTest -
2دورية أكاديمية
المؤلفون: van Wegberg, A M J, MacDonald, A, Ahring, K, Bélanger-Quintana, A, Blau, Nenad, Bosch, A M, Burlina, A, Campistol, J, Feillet, F, Giżewska, M, Huijbregts, S C, Kearney, S, Leuzzi, V, Maillot, F, Muntau, A C, van Rijn, M, Trefz, F, Walter, J H, van Spronsen, F J
المصدر: van Wegberg, A M J; MacDonald, A; Ahring, K; Bélanger-Quintana, A; Blau, Nenad; Bosch, A M; Burlina, A; Campistol, J; Feillet, F; Giżewska, M; Huijbregts, S C; Kearney, S; Leuzzi, V; Maillot, F; Muntau, A C; van Rijn, M; Trefz, F; Walter, J H; van Spronsen, F J (2017). The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet Journal of Rare Diseases, 12(1):162.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/145717/1/Kispi.pdfTest; info:pmid/29025426; urn:issn:1750-1172
الإتاحة: https://doi.org/10.5167/uzh-14571710.1186/s13023-017-0685-2Test
https://www.zora.uzh.ch/id/eprint/145717Test/
https://www.zora.uzh.ch/id/eprint/145717/1/Kispi.pdfTest -
3دورية أكاديمية
المؤلفون: de Groot, M J, Hoeksma, M, Blau, N, Reijngoud, D J, van Spronsen, F J
المصدر: de Groot, M J; Hoeksma, M; Blau, N; Reijngoud, D J; van Spronsen, F J (2010). Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Molecular Genetics and Metabolism, 99(Sup 1):S86-S89.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/38727/11/de_Groot_MolGenMetab_2010_V.pdfTest; info:pmid/20123477; urn:issn:1096-7192
الإتاحة: https://doi.org/10.5167/uzh-3872710.1016/j.ymgme.2009.10.016Test
https://www.zora.uzh.ch/id/eprint/38727Test/
https://www.zora.uzh.ch/id/eprint/38727/11/de_Groot_MolGenMetab_2010_V.pdfTest -
4دورية أكاديمية
المؤلفون: Feillet, F, van Spronsen, F J, MacDonald, A, Trefz, F K, Demirkol, M, Giovannini, M, Bélanger-Quintana, A, Blau, N
المصدر: Feillet, F; van Spronsen, F J; MacDonald, A; Trefz, F K; Demirkol, M; Giovannini, M; Bélanger-Quintana, A; Blau, N (2010). Challenges and pitfalls in the management of phenylketonuria. Pediatrics, 126(2):333-341.
مصطلحات موضوعية: Zurich Center for Integrative Human Physiology (ZIHP), Medical Clinic, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/36071/1/Feillet_Blau_Pediatrics_10.pdfTest; info:pmid/20624808; urn:issn:0031-4005
الإتاحة: https://doi.org/10.5167/uzh-3607110.1542/peds.2009-3584Test
https://www.zora.uzh.ch/id/eprint/36071Test/
https://www.zora.uzh.ch/id/eprint/36071/1/Feillet_Blau_Pediatrics_10.pdfTest -
5دورية أكاديمية
المؤلفون: Blau, N, Bélanger-Quintana, A, Demirkol, M, Feillet, F, Giovannini, M, Macdonald, A, Trefz, F K, van Spronsen, F
المصدر: Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; Macdonald, A; Trefz, F K; van Spronsen, F (2010). Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism, 99(2):109-115.
مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/26475/1/sdarticle%282%29.pdfTest; info:pmid/19800826; urn:issn:1096-7192
الإتاحة: https://doi.org/10.5167/uzh-2647510.1016/j.ymgme.2009.09.005Test
https://www.zora.uzh.ch/id/eprint/26475Test/
https://www.zora.uzh.ch/id/eprint/26475/1/sdarticle%282%29.pdfTest -
6دورية أكاديمية
المؤلفون: Blau, N, Bélanger-Quintana, A, Demirkol, M, Feillet, F, Giovannini, M, MacDonald, A, Trefz, F K, van Spronsen, F J
المصدر: Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, F K; van Spronsen, F J (2009). Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Molecular Genetics and Metabolism, 96(4):158-163.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
العلاقة: https://www.zora.uzh.ch/id/eprint/26473/10/Blau_MolGenMet_2009_v.pdfTest; info:pmid/19208488; urn:issn:1096-7192
الإتاحة: https://doi.org/10.5167/uzh-2647310.1016/j.ymgme.2009.01.002Test
https://www.zora.uzh.ch/id/eprint/26473Test/
https://www.zora.uzh.ch/id/eprint/26473/10/Blau_MolGenMet_2009_v.pdfTest -
7
المؤلفون: Blau, Nenad, van Spronsen, F J, Levy, H L
المساهمون: University of Zurich
مصطلحات موضوعية: 2716 Genetics (clinical), 1311 Genetics, 10036 Medical Clinic, 10076 Center for Integrative Human Physiology, 570 Life sciences, biology, 610 Medicine & health
وصف الملف: Blau_Lancet_10.pdf - application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______885::dfb6553a0e1fc13aa8c154666ed706e4Test
https://www.zora.uzh.ch/id/eprint/38589Test/ -
8دورية أكاديمية
المساهمون: Blau, N, MacDonald, A, van Spronsen, F J, Blau, N ( N ), MacDonald, A ( A ), van Spronsen, F J ( F J )
المصدر: Management of phenylketonuria: current position. Edited by: Blau, N; MacDonald, A; van Spronsen, F J (2011). Amsterdam, The Netherlands: Elsevier.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
العلاقة: https://www.zora.uzh.ch/56734Test; urn:issn:1096-7192
الإتاحة: https://doi.org/10.1016/j.ymgme.2011.10.007Test
https://www.zora.uzh.ch/id/eprint/56734Test/
https://www.zora.uzh.ch/56734Test
http://www.sciencedirect.com/science/journal/10967192/104/supp/STest -
9دورية أكاديمية
المساهمون: Blau, Nenad, Burton, B K, Thöny, B, van Spronsen, F J, Waisbren, S, Blau, N ( Nenad ), Burton, B K ( B K ), Thöny, B ( B ), van Spronsen, F J ( F J ), Waisbren, S ( S )
المصدر: Phenylketonuria and BH4 deficiencies. Edited by: Blau, Nenad; Burton, B K; Thöny, B; van Spronsen, F J; Waisbren, S (2010). Bremen: UNI-MED Verlag AG.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
العلاقة: https://www.zora.uzh.ch/38739Test; urn:isbn:978-3-8374-1238-3
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10دورية أكاديمية
المساهمون: Blau, Nenad, Thöny, Beat, Burlina, Alberto B, Burton, Barbara K, Cannet, Claire, Harding, Gary O, Levy, Harvey L, Lichter-Konecki, Uta, Longo, Nicola, MacDonald, Anita, Martinez, Aurora, Trefz, Friedrich K, van Spronsen, Francjan J, Vockley, Jerry, van Wegberg, Annemiek Mj, Blau, N ( Nenad ), Thöny, B ( Beat ), Burlina, A B ( Alberto B ), Burton, B K ( Barbara K ), Cannet, C ( Claire ), Harding, G O ( Gary O ), Levy, H L ( Harvey L ), Lichter-Konecki, U ( Uta ), Longo, N ( Nicola ), MacDonald, A ( Anita ), Martinez, A ( Aurora ), Trefz, F K ( Friedrich K ), van Spronsen, F J ( Francjan J ), Vockley, J ( Jerry ), van Wegberg, A M ( Annemiek Mj )
المصدر: Phenylketonuria and BH4 Deficiencies / 4th ed. Edited by: Blau, Nenad; Thöny, Beat; Burlina, Alberto B; Burton, Barbara K; Cannet, Claire; Harding, Gary O; Levy, Harvey L; Lichter-Konecki, Uta; Longo, Nicola; MacDonald, Anita; Martinez, Aurora; Trefz, Friedrich K; van Spronsen, Francjan J; Vockley, Jerry; van Wegberg, Annemiek Mj (2021). Bremen, London, Boston: Uni-Med Verlag AG.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
العلاقة: https://www.zora.uzh.ch/214639Test; urn:isbn:978-3-8374-1601-5
النص الكامل