المؤلفون: Venegas, Eva, Langeveld, Simone, Ahring, Kirsten, Benitez, Rosa, Desloovere, An, Dios, Elena, Gómez, Eva, Hermida, Alvaro, Marsaux, Cyril, VERLOO, PATRICK, Couce, Maria-Luz

المصدر: NUTRIENTS ; ISSN: 2072-6643

مصطلحات موضوعية: Biology and Life Sciences, Medicine and Health Sciences, phenylalanine hydroxylase deficiency, nutritional status, amino acid, micronutrient, cognitive wellbeing, FACT-COG, PKU, DEFICIENCY, CANCER, RISK

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/01JCGW9T7YGEXYVC146Z132WBE; http://doi.org/10.3390/nu16162724; https://biblio.ugent.be/publication/01JCGW9T7YGEXYVC146Z132WBE/file/01JCGWBF7YPE3GYS2GJD0AVREK

الاتاحة: https://biblio.ugent.be/publication/01JCGW9T7YGEXYVC146Z132WBE
http://hdl.handle.net/1854/LU-01JCGW9T7YGEXYVC146Z132WBE
https://doi.org/10.3390/nu16162724
https://biblio.ugent.be/publication/01JCGW9T7YGEXYVC146Z132WBE/file/01JCGWBF7YPE3GYS2GJD0AVREK

المؤلفون: Feillet, François, Arnoux, Jean-Baptiste, Delgado, María Bueno, Burlina, Alberto, Chabrol, Brigitte, Kucuksayrac, Ece, Lagler, Florian B, Muntau, Ania C, Olsson, David, Paci, Sabrina, Rutsch, Frank, van Spronsen, Francjan J

المصدر: J Inherit Metab Dis ; ISSN:1573-2665 ; Volume:48 ; Issue:1

مصطلحات موضوعية: BH4, KAMPER, hyperphenylalaninaemia, phenylalanine hydroxylase deficiency, phenylketonuria, sapropterin dihydrochloride

Relation: https://doi.org/10.1002/jimd.12796; https://pubmed.ncbi.nlm.nih.gov/39237321; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667744/

الاتاحة: https://doi.org/10.1002/jimd.12796
https://pubmed.ncbi.nlm.nih.gov/39237321
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11667744/

المؤلفون: Baitao Zeng, Qing Lu, Shaohong Chen, Huizhen Guan, Xiaolan Xu, Yongyi Zou, Feng Wang, Shuhui Huang, Yanqiu Liu, Bicheng Yang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: phenylalanine hydroxylase deficiency, newborn screening, mutational spectrum, arbitrary values, Jiangxi province, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1049816/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9f13985710324df08bb812e70bd5beeb

المؤلفون: Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila, Sarah Landis

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-18 (2021)

مصطلحات موضوعية: Phenylketonuria, Hyperphenylalaninemia, Prevalence, Newborn screening, Phenylalanine hydroxylase deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3e44081e8a374ed68ac64f9082d1ee16

المؤلفون: Xin Wang, Yanyun Wang, Dingyuan Ma, Zhilei Zhang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Hyperphenylalaninemia, Neonatal screening, Phenylalanine hydroxylase deficiency, Tetrahydrobiopterin deficiency, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/987d7fbf49c347fabb187b5e6e98a4ba

المؤلفون: Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Phenylalanine hydroxylase deficiency, Phenylketonuria, Clinical guidelines, Management, Treatment recommendations, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01541-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/6dc44ebe087b41029b04082d0bba618c

المؤلفون: Susanne Hopf, Caroline Nowak, Julia B. Hennermann, Irene Schmidtmann, Norbert Pfeiffer, Susanne Pitz

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Saccadometry, Video-oculography, Saccades, Phenylketonuria, Hyperphenylalaninemia, Phenylalanine hydroxylase deficiency, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01407-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9d097e4c638b4c8a8a4eace21385bde5

المؤلفون: Coskun, Turgay, Mungan, Neslihan Onenli, Ozel, Hulya Gokmen, Sivri, H. Serap, Coker, Mahmut

مصطلحات موضوعية: hyperphenylalaninemia, phenylketonuria, phenylalanine hydroxylase deficiency, management, diet, tetrahydrobiopterin, sapropterin, Phenylalanine Concentration, Children, Growth, Blood, Age, Overweight, Nutrition, Assay, Pku

Relation: Turkish Journal Of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/78297; https://doi.org/10.24953/turkjped.2021.4098; Onenli Mungan, Halise Neslihan/0000-0001-7862-3038; 64; 413; 434

الاتاحة: https://hdl.handle.net/11454/78297
https://doi.org/10.24953/turkjped.2021.4098

المؤلفون: Ahring, Kirsten K., Dagnæs-Hansen, Frederik, Brüel, Annemarie, Christensen, Mette, Jensen, Erik, Jensen, Thomas G., Johannsen, Mogens, Johansen, Karen S., Lund, Allan M., Madsen, Jesper G., Brøndum-Nielsen, Karen, Pedersen, Michael, Sørensen, Lambert K., Kjolby, Mads, Møller, Lisbeth B.

المصدر: Ahring , K K , Dagnæs-Hansen , F , Brüel , A , Christensen , M , Jensen , E , Jensen , T G , Johannsen , M , Johansen , K S , Lund , A M , Madsen , J G , Brøndum-Nielsen , K , Pedersen , M , Sørensen , L K , Kjolby , M & Møller , L B 2022 , ' The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model ' , PLOS ONE , vol. 17 , no. 1 , ....

مصطلحات موضوعية: Amino Acids/blood, Animals, Bone Density, Bone and Bones/diagnostic imaging, Brain/metabolism, Caseins/therapeutic use, Dietary Supplements, Disease Models, Animal, Female, Maze Learning, Mice, Inbred C57BL, Peptide Fragments/therapeutic use, Phenylalanine Hydroxylase/deficiency, Phenylalanine/analysis, Phenylketonurias/diet therapy, Serotonin/blood, Tyrosine/blood

الاتاحة: https://pure.au.dk/portal/da/publications/the-effect-of-casein-glycomacropeptide-versus-free-synthetic-amino-acids-for-early-treatment-of-phenylketonuria-in-a-mice-model(e3729999-5996-45fb-b7e6-58ac73919dab).html
https://doi.org/10.1371/journal.pone.0261150
http://www.scopus.com/inward/record.url?scp=85122635820&partnerID=8YFLogxK

المؤلفون: Amelie S. Lotz-Havla, Katharina Weiß, Katharina Schiergens, Stephanie Regenauer-Vandewiele, Klaus G. Parhofer, Tara Christmann, Luise Böhm, Joachim Havla, Esther M. Maier

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: phenylketonuria, PKU, phenylalanine hydroxylase deficiency, optical coherence tomography, OCT, retinal neuroaxonal degeneration, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.780624/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/dc53cab277ff4e09819fe14c49b08d4f

المؤلفون: Cary O. Harding

المصدر: Molecular Frontiers Journal, Vol 3, Iss 2, Pp 110-121 (2019)

مصطلحات موضوعية: phenylketonuria, phenylalanine hydroxylase deficiency, phenylalanine, hepatocyte transplantation, liver-directed gene therapy, gene editing, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2529-7325; https://doaj.org/toc/2529-7333

URL الوصول: https://doaj.org/article/622da3411a0640b58436d37cc40b8155

المؤلفون: Ilgaz, Fatma, Marsaux, Cyril, Pinto, Alex, Singh, Rani, Rohde, Carmen, Karabulut, Erdem, Gökmen-Özel, Hülya, Kuhn, Mirjam, MacDonald, Anita

مصطلحات موضوعية: phenylalanine hydroxylase deficiency, hyperphenylalaninemia, PKU, protein substitute, medical formula, amino acid mixture, tetrahydrobiopterin, sapropterin, BH4, info:eu-repo/classification/ddc/610, ddc:610

Relation: 1040

الاتاحة: https://ul.qucosa.de/id/qucosa%3A85311
https://ul.qucosa.de/api/qucosa%3A85311/attachment/ATT-0/

المؤلفون: Andrade, Fernando, Cano, Ainara, Unceta Suarez, María, Arza, Arantza, Vinuesa, Ana, Ceberio, Leticia, López-Oslé, Nuria, Frutos, Gorka de, López-Oceja, Raquel, Aznal, Elena, González-Lamuño Leguina, Domingo, Heras, Javier de las

المساهمون: Universidad de Cantabria

المصدر: Journal of clinical medicine 2021, 10, 3674

مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Phenylalanine hydroxylase deficiency, Phenylacetylglutamine, Biomarkers, Dried blood spot

Relation: https://doi.org/10.3390/jcm10163674; http://hdl.handle.net/10902/24543

الاتاحة: http://hdl.handle.net/10902/24543

المؤلفون: Pamela K. Foreman (10919891), Andrea V. Margulis (4800876), Kimberly Alexander (194853), Renee Shediac (10919894), Brian Calingaert (3496178), Abenah Harding (10919897), Manel Pladevall-Vila (10919900), Sarah Landis (10919903)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Biotechnology, Science Policy, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Phenylketonuria, Hyperphenylalaninemia, Prevalence, Newborn screening, Phenylalanine hydroxylase deficiency

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Birth_prevalence_of_phenylalanine_hydroxylase_deficiency_a_systematic_literature_review_and_meta-analysis/14728508

الاتاحة: https://doi.org/10.6084/m9.figshare.14728508.v1

المؤلفون: Pamela K. Foreman (10919891), Andrea V. Margulis (4800876), Kimberly Alexander (194853), Renee Shediac (10919894), Brian Calingaert (3496178), Abenah Harding (10919897), Manel Pladevall-Vila (10919900), Sarah Landis (10919903)

مصطلحات موضوعية: Medicine, Cell Biology, Molecular Biology, Biotechnology, Science Policy, Computational Biology, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Phenylketonuria, Hyperphenylalaninemia, Prevalence, Newborn screening, Phenylalanine hydroxylase deficiency

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Birth_prevalence_of_phenylalanine_hydroxylase_deficiency_a_systematic_literature_review_and_meta-analysis/14728514

الاتاحة: https://doi.org/10.6084/m9.figshare.14728514.v1

المؤلفون: Fernando Andrade, Ainara Cano, María Unceta Suarez, Arantza Arza, Ana Vinuesa, Leticia Ceberio, Nuria López-Oslé, Gorka de Frutos, Raquel López-Oceja, Elena Aznal, Domingo González-Lamuño, Javier de las Heras

المصدر: Journal of Clinical Medicine; Volume 10; Issue 16; Pages: 3674

مصطلحات موضوعية: phenylketonuria, phenylalanine, phenylalanine hydroxylase deficiency, phenylacetylglutamine, biomarkers, dried blood spot

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10163674

الاتاحة: https://doi.org/10.3390/jcm10163674

المؤلفون: Fatma Ilgaz, Cyril Marsaux, Alex Pinto, Rani Singh, Carmen Rohde, Erdem Karabulut, Hülya Gökmen-Özel, Mirjam Kuhn, Anita MacDonald

المصدر: Nutrients; Volume 13; Issue 3; Pages: 1040

مصطلحات موضوعية: phenylalanine hydroxylase deficiency, hyperphenylalaninemia, PKU, protein substitute, medical formula, amino acid mixture, tetrahydrobiopterin, sapropterin, BH4

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Clinical Nutrition; https://dx.doi.org/10.3390/nu13031040

الاتاحة: https://doi.org/10.3390/nu13031040

المؤلفون: Jennifer Beazer, Jane Breck, Caroline Eggerding, Patricia Gordon, Stephanie Hacker, Amie Thompson

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: Patient care management, Phenylalanine hydroxylase deficiency, Phenylketonuria, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300173; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ba0af300337446a0b8094852528a28d1

المؤلفون: A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Bélanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Giżewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-56 (2017)

مصطلحات موضوعية: European, Guidelines, Phenylalanine hydroxylase deficiency, PAH deficiency, Phenylketonuria, PKU, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0685-2; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/69496143d50049b5a14e76980b01a9b6

المؤلفون: Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Dordevic, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A. F., Fajkusova, Lena, Feillet, Francois, Bonfim-Freitas, Pedro E., Gizewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey, Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander, Porta, Francesco, Rohrbach, Marianne, Scholl-Burgi, Sabine, Specola, Norma, Stojiljkovic, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thony, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad

المصدر: Hillert , A , Anikster , Y , Belanger-Quintana , A , Burlina , A , Burton , B K , Carducci , C , Chiesa , A E , Christodoulou , J , Dordevic , M , Desviat , L R , Eliyahu , A , Evers , R A F , Fajkusova , L , Feillet , F , Bonfim-Freitas , P E , Gizewska , M , Gundorova , P , Karall , D , Kneller , K , Kutsev , S , Leuzzi , V , Levy , H L , Lichter-Konecki , U , ....

مصطلحات موضوعية: PHENYLALANINE-HYDROXYLASE DEFICIENCY, GENOTYPE-PHENOTYPE CORRELATIONS, MOLECULAR CHARACTERIZATION, PAH GENE, MUTATIONS, HYPERPHENYLALANINEMIA, DIAGNOSIS, PATIENT, ORIGINS, STATE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/2c098ef6-f19a-4318-89ba-1f1b7f93649b
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b
https://doi.org/10.1016/j.ajhg.2020.06.006
https://pure.rug.nl/ws/files/133222455/The_Genetic_Landscape_and_Epidemiology_of_Phenylketonuria.pdf