المؤلفون: Alex Pinto, Fatma Ilgaz, Sharon Evans, Esther van Dam, Júlio César Rocha, Erdem Karabulut, Mary Hickson, Anne Daly, Anita MacDonald

المصدر: Nutrients, Vol 15, Iss 16, p 3506 (2023)

مصطلحات موضوعية: phenylketonuria, PKU, protein, protein tolerance, protein substitute, natural protein, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/15/16/3506Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/3b067339827249e4953763bc2456ae42Test

المؤلفون: Kimber van Vliet, Wiggert G. van Ginkel, Esther van Dam, Pim de Blaauw, Martijn Koehorst, Hermi A. Kingma, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Phenylalanine, Tyrosine, Dried blood spots, Lithium heparin plasma, EDTA plasma, Tandem mass spectrometry, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-1343-7Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/89213eef49374052ac8036acb04552e2Test

المؤلفون: Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100771- (2021)

مصطلحات موضوعية: Phenylketonuria, PKU, Phenylalanine, Pegvaliase, Nutrition, Dietitian, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000653Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/7da1310c6578481e9e90c62904657daaTest

المؤلفون: Kimber van Vliet, Elise S. Melis, Pim de Blaauw, Esther van Dam, Ronald G. H. J. Maatman, David Abeln, Francjan J. van Spronsen, M. Rebecca Heiner-Fokkema

المصدر: Nutrients, Vol 12, Iss 6, p 1887 (2020)

مصطلحات موضوعية: aspartame, phenylalanine, aspartylphenylalanine, diketopiperazine, soft drinks, phenylketonuria, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/12/6/1887Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/f98454c3e905496191bff2c1f3755d1fTest

المؤلفون: Fatma Ilgaz, Alex Pinto, Hülya Gökmen-Özel, Julio César Rocha, Esther van Dam, Kirsten Ahring, Amaya Bélanger-Quintana, Katharina Dokoupil, Erdem Karabulut, Anita MacDonald

المصدر: Nutrients, Vol 11, Iss 9, p 2070 (2019)

مصطلحات موضوعية: phenylketonuria, hyperphenylalaninemia, growth, anthropometrics, weight, height, z-scores, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/11/9/2070Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/641ccf0c2ce7463fb3bf5765721c3959Test

المؤلفون: Nishant N. Vaikath, Nour K. Majbour, Katerina E. Paleologou, Mustafa T. Ardah, Esther van Dam, Wilma D.J. van de Berg, Shelley L. Forrest, Laura Parkkinen, Wei-Ping Gai, Nobutaka Hattori, Masashi Takanashi, Seung-Jae Lee, David M.A. Mann, Yuzuru Imai, Glenda M. Halliday, Jia-Yi. Li, Omar M.A. El-Agnaf

المصدر: Neurobiology of Disease, Vol 79, Iss , Pp 81-99 (2015)

مصطلحات موضوعية: α-Synuclein, Conformation-specific monoclonal antibodies, Parkinson’s disease, Dementia with Lewy bodies, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996115001564Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/19a44523c3ba42558d9a4cf1d1828f27Test

المؤلفون: Esther van Dam, Mirian C. H. Janssen, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen, Annemiek M. J. van Wegberg, Roeland A F Evers, Maaike de Vries

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Academic Medical Center

المصدر: Molecular Genetics and Metabolism, 129, 3, pp. 186-192
Molecular Genetics and Metabolism, 129, 186-192
Molecular Genetics and Metabolism, 129(3), 186-192. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 129(3), 186-192. Academic Press Inc.

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Time Factors, Adolescent, Genotype, Phenylalanine, Endocrinology, Diabetes and Metabolism, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, Loading test, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Endocrinology, Treatment trial, Phenylketonurias, Genetics, Phenylketonuria, Humans, Medicine, Child, Molecular Biology, BH4, Tetrahydrobiopterin, Diagnostic Tests, Routine, business.industry, Responsiveness, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Biopterin, Test (assessment), Dietary treatment, PKU, Anesthesia, Mutation, Female, Once daily, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60734c1842871440d17f7248a995c913Test
https://doi.org/10.1016/j.ymgme.2019.12.011Test

المؤلفون: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche

المساهمون: MUMC+: TPZ Dietetiek (9), RS: FHML non-thematic output

المصدر: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Methylmalonic acid, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], 030105 genetics & heredity, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, Propionic acidemia, Child, propionic acidemia, Nutritional Support, precursor-free amino acids, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Gastrostomy, methylmalonic acidaemia, Europe, Child, Preschool, Precursor-free amino acids, acidurias, Female, Dietary Proteins, methylmalonic acidaemia, natural protein, precursor-free amino acids, protein-restricted diet, Methylmalonic acidaemia, medicine.medical_specialty, Adolescent, growth, organic acidemias, protein-restricted diet, World health, 03 medical and health sciences, medicine, MANAGEMENT, Humans, Vitamin B12, Medical prescription, Amino Acid Metabolism, Inborn Errors, business.industry, Infant, Newborn, Dietary management, Infant, Natural protein, medicine.disease, Cross-Sectional Studies, chemistry, Pediatrics, Perinatology and Child Health, natural protein, Protein-restricted diet, Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396Test
https://doi.org/10.1515/jpem-2019-0277Test

المؤلفون: Georgios Marinos, Joao B. Mokochinski, Matthias Laudes, Claudia Lennicke, Alec J. Vincent, Christoph Kaleta, Lucie A.G. van Leeuwen, Eliano dos Santos, Esther van Dam, Joel James, Marcela Buricova, Holger Kramer, Andrea Foley, Andre Franke, Lena Best, Helena M. Cochemé, Wolfgang Lieb

المصدر: Aging (Albany NY)
Cell Metabolism

مصطلحات موضوعية: 0301 basic medicine, Purine, obesity, Physiology, Type 2 diabetes, 0601 Biochemistry and Cell Biology, chemistry.chemical_compound, 0302 clinical medicine, Purine metabolism, Dehydration, diabetes, biology, metabolic disease, Editorial, 1101 Medical Biochemistry and Metabolomics, high-sugar diet, Drosophila, Metabolic Networks and Pathways, medicine.medical_specialty, Longevity, Article, Endocrinology & Metabolism, 03 medical and health sciences, Insulin resistance, uric acid, Diabetes mellitus, Internal medicine, medicine, Animals, Humans, Drosophila (subgenus), Sugar, Molecular Biology, Catabolism, aging, purine catabolism, Water, water imbalance, Cell Biology, biology.organism_classification, medicine.disease, Obesity, 030104 developmental biology, Endocrinology, chemistry, Purines, sugar diet, Uric acid, Insulin Resistance, Sugars, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21cc62493cbb7e9722fd63e484c2b621Test
https://doi.org/10.1530/ey.18.12.9Test

المؤلفون: Hulya Gokmen-Ozel, Esther van Dam, Amaya Belanger-Quintana, Fran Rohr, Alexandra Jung, Júlio César Rocha, Laurie Bernstein, Anita MacDonald, Heather Bausell, Margret Heddrich-Ellerbrok

المساهمون: NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)

المصدر: Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100771-(2021)
Molecular genetics and metabolism reports, 28:100771. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, BMI, body mass index, Phenylalanine, PKU, phenylketonuria, LBP, low blood phenylalanine, Pegvaliase, PHE - Phenylalanine, DXA, dual-energy x-ray absorptiometry, Dietitian, CHLC MTB, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, R5-920, Educational support, Genetics, Medicine, Phenylketonuria, Phenylketonuria (PKU), Road map, Biology (General), Molecular Biology, Nutrition, 0303 health sciences, PAH, phenylalanine hydroxylase, business.industry, 030305 genetics & heredity, DRI, dietary reference intake, Treatment team, medicine.disease, FDA, Food and Drug Administration, QoL, quality of life, SAPROPTERIN DIHYDROCHLORIDE, Nutritionist, Family medicine, PKU, PAL, PEGylated recombinant phenylalanine ammonia lyase, EMA, European Medicines Agency, Phe, phenylalanine, business, 030217 neurology & neurosurgery, BMI - Body mass index, Research Paper

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7938b8f45f942ba77838bd72abd58addTest
http://www.sciencedirect.com/science/article/pii/S2214426921000653Test