المؤلفون: Boot, E., Hollak, C. E. M., Huijbregts, S. C. J., Jahja, R., van Vliet, D., Nederveen, A. J., Nieman, D. H., Bosch, A. M., Bour, L. J., Bakermans, A. J., Abeling, N. G. G. M., Bassett, A. S., van Amelsvoort, T. A. M. J., van Spronsen, F. J., Booij, J.

المصدر: Boot , E , Hollak , C E M , Huijbregts , S C J , Jahja , R , van Vliet , D , Nederveen , A J , Nieman , D H , Bosch , A M , Bour , L J , Bakermans , A J , Abeling , N G G M , Bassett , A S , van Amelsvoort , T A M J , van Spronsen , F J & Booij , J 2017 , ' Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria ' , Psychological Medicine ....

مصطلحات موضوعية: Dopamine, executive function, impulsivity, monoamines, phenylketonuria, MAGNETIC-RESONANCE-SPECTROSCOPY, CONTINUOUSLY TREATED PHENYLKETONURIA, BRAIN PHENYLALANINE CONCENTRATIONS, VISUAL-EVOKED POTENTIALS, 22Q11 DELETION SYNDROME, GENETIC MOUSE MODEL, HOMOVANILLIC-ACID, AMINO-ACIDS, NEUROPSYCHOLOGICAL TESTS, RECEPTOR AVAILABILITY

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/1d2770d8-d60f-46bd-bb07-18fa54df2dc0Test

الإتاحة: https://doi.org/10.1017/S0033291717001398Test
https://hdl.handle.net/11370/1d2770d8-d60f-46bd-bb07-18fa54df2dc0Test
https://research.rug.nl/en/publications/1d2770d8-d60f-46bd-bb07-18fa54df2dc0Test
https://pure.rug.nl/ws/files/51215458/cerebral_dopamine_deficiency_plasma_monoamine_alterations_and_neurocognitive_deficits_in_adults_with_phenylketonuria.pdfTest

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

المؤلفون: Koens, L. H., Kuiper, A., Coenen, M. A., Elting, J. W. J., de Vries, J. J., Engelen, M., Koelman, J. H. T. M., van Spronsen, F. J., Spikman, J. M., de Koning, T. J., Tijssen, M. A. J.

المصدر: Koens , L H , Kuiper , A , Coenen , M A , Elting , J W J , de Vries , J J , Engelen , M , Koelman , J H T M , van Spronsen , F J , Spikman , J M , de Koning , T J & Tijssen , M A J 2016 , ' Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C ' , Orphanet journal of rare diseases , vol. 11 , no. 1 , 121 . https://doi.org/10.1186/s13023-016-0502-3Test

مصطلحات موضوعية: Niemann-Pick type C, Cortical myoclonus, EEG-EMG coherence, Ataxia, Cognitive deficits, DISEASE TYPE-C, MOVEMENT-DISORDERS, CEREBELLUM, PATHOLOGY, REGISTRY, INDEX

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/f843d238-8951-4ba8-b7c7-c805c5e1527fTest

الإتاحة: https://doi.org/10.1186/s13023-016-0502-3Test
https://hdl.handle.net/11370/f843d238-8951-4ba8-b7c7-c805c5e1527fTest
https://research.rug.nl/en/publications/f843d238-8951-4ba8-b7c7-c805c5e1527fTest
https://pure.rug.nl/ws/files/38886628/art_3A10.1186_2Fs13023_016_0502_3.pdfTest

المؤلفون: Leuzzi V., Chiarotti F., Nardecchia F., Van Vliet D., Van Spronsen F. J.

المساهمون: Leuzzi, V., Chiarotti, F., Nardecchia, F., Van Vliet, D., Van Spronsen, F. J.

مصطلحات موضوعية: clinical outcome, personalized treatment, phenylketonuria, variability, vulnerability

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31484718; info:eu-repo/semantics/altIdentifier/wos/WOS:000518193900001; volume:57; issue:3; firstpage:145; lastpage:150; numberofpages:6; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11573/1410134Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072053073

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106278Test
http://hdl.handle.net/11573/1410134Test

المؤلفون: MacDonald A., Van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Burlina A., Campistol J., Coskun T., Feillet F., Gizewska M., Huijbregts S. C., Leuzzi V., Maillot F., Muntau A. C., Rocha J. C., Romani C., Trefz F., Van Spronsen F. J.

المساهمون: Macdonald, A., Van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., Van Spronsen, F. J.

مصطلحات موضوعية: Diet, Guideline, Phenylketonuria, PKU, Recommendation, Treatment

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32605583; info:eu-repo/semantics/altIdentifier/wos/WOS:000546816600002; volume:15; issue:1; firstpage:171; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471059Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087403325

الإتاحة: https://doi.org/10.1186/s13023-020-01391-yTest
http://hdl.handle.net/11573/1471059Test

المؤلفون: MacDonald A., Van Wegberg A. M. J., Ahring K., Beblo S., Belanger-Quintana A., Burlina A., Campistol J., Coskun T., Feillet F., Gizewska M., Huijbregts S. C., Leuzzi V., Maillot F., Muntau A. C., Rocha J. C., Romani C., Trefz F., Van Spronsen F. J.

المساهمون: Macdonald, A., Van Wegberg, A. M. J., Ahring, K., Beblo, S., Belanger-Quintana, A., Burlina, A., Campistol, J., Coskun, T., Feillet, F., Gizewska, M., Huijbregts, S. C., Leuzzi, V., Maillot, F., Muntau, A. C., Rocha, J. C., Romani, C., Trefz, F., Van Spronsen, F. J.

مصطلحات موضوعية: PKU, dietary treatment, correction

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32873338; info:eu-repo/semantics/altIdentifier/wos/WOS:000566146300001; volume:15; issue:1; firstpage:230; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1471033Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090180062

الإتاحة: https://doi.org/10.1186/s13023-020-01486-6Test
http://hdl.handle.net/11573/1471033Test

المؤلفون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann KH, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, McAlister, L, McCabe, A, McKie, M, McMahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S

المساهمون: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M

مصطلحات موضوعية: Niemann-Pick disease type C, Miglustat, Registry

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26017010; info:eu-repo/semantics/altIdentifier/wos/WOS:000355918100001; volume:10; issue:1; firstpage:1; lastpage:9; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11365/979373Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84931039342; http://www.ojrd.com/content/10/1/65Test

الإتاحة: https://doi.org/10.1186/s13023-015-0284-zTest
http://hdl.handle.net/11365/979373Test
http://www.ojrd.com/content/10/1/65Test

المؤلفون: Pilotto, A., Zipser, E., Leks, E., Haas, D., Gramer, G., Freisinger, P., Schaeffer, E., Liepelt-Scarfone, I., Brockmann, K., Maetzler, W., Schulte, C., Deuschle, C., Hauser, A., Hoffmann, G., Scheffler, K., van Spronsen, F., Padovani, A., Trefz, F., Berg, D.

المصدر: Neurology

العلاقة: http://hdl.handle.net/21.11116/0000-0007-4DA9-5Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000011088Test
http://hdl.handle.net/21.11116/0000-0007-4DA9-5Test

المؤلفون: MacDonald, A., van Spronsen, F., Giovannini, M., Trefz, F. K., Demirkol, M., Blau, N., Belanger-Quintana, A., Feillet, F.

المساهمون: University Children''s Hospital Zurich ,, 193772

مصطلحات موضوعية: Çocuk Sağlığı ve Hastalıkları, PEDİATRİ, Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri

العلاقة: ACTA PAEDIATRICA; Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F. K. , van Spronsen F., "MANAGEMENT OF PHENYLKETONURIA (PKU) IN EUROPE: SURVEY RESULTS FROM 19 COUNTRIES", ACTA PAEDIATRICA, cilt.98, ss.144-145, 2009; vv_1032021; av_8ec84b7b-ff5d-4e61-b919-052943d18186; http://hdl.handle.net/20.500.12627/96470Test; 98; 144; 145

الإتاحة: https://doi.org/20.500.12627/96470Test
https://hdl.handle.net/20.500.12627/96470Test

المؤلفون: Belanger-Quintana, A., Demirkol, M., Feillet, F., Giovannini, M., MacDonald, A., Trefz, F. K., van Spronsen, F. J., Blau, N.

المساهمون: University Children''s Hospital Zurich ,, 189173

مصطلحات موضوعية: Yaşam Bilimleri, ENDOKRİNOLOJİ VE METABOLİZMA, Klinik Tıp, Klinik Tıp (MED), GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, İç Hastalıkları, Endokrinoloji ve Metabolizma Hastalıkları, Tıbbi Genetik, Temel Bilimler, Tıbbi Ekoloji ve Hidroklimatoloji

العلاقة: JOURNAL OF INHERITED METABOLIC DISEASE; Blau N., Belanger-Quintana A., Demirkol M., Feillet F., Giovannini M., MacDonald A., Trefz F. K. , van Spronsen F. J. , "Management of phenylketonuria (PKU) in Europe: A review from 8 countries", JOURNAL OF INHERITED METABOLIC DISEASE, cilt.31, ss.83, 2008; vv_1032021; av_8c245cc2-07a1-4ba4-ac61-175b01c59026; http://hdl.handle.net/20.500.12627/94820Test; 31; 83

الإتاحة: https://doi.org/20.500.12627/94820Test
https://hdl.handle.net/20.500.12627/94820Test