المؤلفون: Macdonald, A., Ahring, K., Almeida, 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, S., Kamieńska, E., Maillot, F., Lammardo, M., Muntau, A., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.

المساهمون: Birmingham Children's Hospital, Glostrup Hospital, Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto = University of Porto, Hospital Universitario Ramón y Cajal Madrid, Universidad de Alcalá - University of Alcalá (UAH), Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Division of Inherited Metabolic Diseases Padua, Università degli Studi di Padova = University of Padua (Unipd), Great Ormond Street Hospital for Children London (GOSH), Department of Inherited Metabolic Disorders Hacettepe, Hacettepe University = Hacettepe Üniversitesi, Department of Metabolism and Nutrition Dr von Hauner Children's Hospital, Dr von Hauner Children's Hospital Munich, Germany, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU)-Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Pomeranian Medical University Szczecin (PUM), Department of Nutrition and Dietetic Hacettepe, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Niche, Nutrition, Cancer et métabolisme oxydatif (N2Cox), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne-Nutrition, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), San Paolo Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Center of Research in Health Technologies and Information Systems (CINTESIS), Division of Inborn Metabolic Diseases Heidelberg, University of Groningen Groningen

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: Co-existent, Diet, Phenylalanine, Phenylketonuria, Sapropterin, [SDV]Life Sciences [q-bio]

العلاقة: hal-01685617; https://hal.univ-lorraine.fr/hal-01685617Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2015.10.001Test
https://hal.univ-lorraine.fr/hal-01685617Test

المؤلفون: Macdonald, A., Ahring, K., Almeida, 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, S., Kamieńska, E., Maillot, F., Lammardo, M., Muntau, A., Puchwein-Schwepcke, A., Robert, M., Rocha, J.C., Santra, S., Skeath, R., Strączek, K., Trefz, F., van Dam, E., van Rijn, M., van Spronsen, F., Vijay, S.

المساهمون: Birmingham Children's Hospital, Glostrup Hospital, Instituto de Ciências Biomédicas de Abel Salazar (ICBAS), Universidade do Porto = University of Porto, Hospital Universitario Ramón y Cajal Madrid, Universidad de Alcalá - University of Alcalá (UAH), Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Division of Inherited Metabolic Diseases Padua, Università degli Studi di Padova = University of Padua (Unipd), Great Ormond Street Hospital for Children London (GOSH), Department of Inherited Metabolic Disorders Hacettepe, Hacettepe University = Hacettepe Üniversitesi, Department of Metabolism and Nutrition Dr von Hauner Children's Hospital, Dr von Hauner Children's Hospital Munich, Germany, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU)-Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Pomeranian Medical University Szczecin (PUM), Department of Nutrition and Dietetic Hacettepe, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Niche, Nutrition, Cancer et métabolisme oxydatif (N2Cox), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Interne-Nutrition, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), San Paolo Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Hôpital Universitaire des Enfants Reine Fabiola, Université libre de Bruxelles (ULB), Center of Research in Health Technologies and Information Systems (CINTESIS), Division of Inborn Metabolic Diseases Heidelberg, University of Groningen Groningen

المصدر: ISSN: 1096-7192.

مصطلحات موضوعية: Co-existent, Diet, Phenylalanine, Phenylketonuria, Sapropterin, [SDV]Life Sciences [q-bio]

العلاقة: hal-01685617; https://hal.univ-lorraine.fr/hal-01685617Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2015.10.001Test
https://hal.univ-lorraine.fr/hal-01685617Test

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

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

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

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