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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000653; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/7da1310c6578481e9e90c62904657daa

المؤلفون: Friederike Bärhold, Uta Meyer, Anne-Kathrin Neugebauer, Eva Maria Thimm, Dinah Lier, Stefanie Rosenbaum-Fabian, Ulrike Och, Anna Fekete, Dorothea Möslinger, Carmen Rohde, Skadi Beblo, Michel Hochuli, Nina Bogovic, Vanessa Korpel, Stephan vom Dahl, Sebene Mayorandan, Aleksandra Fischer, Peter Freisinger, Katharina Dokoupil, Margret Heddrich-Ellerbrok, Monika Jörg-Streller, Agnes van Teeffelen-Heithoff, Janina Lahl, Anibh Martin Das

المصدر: Nutrients, Vol 13, Iss 1, p 134 (2020)

مصطلحات موضوعية: hepatorenal tyrosinaemia, tyrosinaemia type 1, low protein diet, phenylalanine, tyrosine, inborn error of metabolism, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/13/1/134; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/d2e9a9f6726d4e4a9fd7ec4da43b5885

المؤلفون: Karina Grohmann‐Held, Peter Burgard, Christoph G. O. Baerwald, Skadi Beblo, Stephan vom Dahl, Anibh Das, Katharina Dokoupil, Sandra Fleissner, Peter Freisinger, Margret Heddrich‐Ellerbrok, Alexandra Jung, Vanessa Korpel, Johannes Krämer, Dinah Lier, Esther M. Maier, Uta Meyer, Chris Mühlhausen, Martha Newger, Ulrike Och, Ursula Plöckinger, Stefanie Rosenbaum‐Fabian, Frank Rutsch, René Santer, Petra Schick, Martin Schwarz, Ute Spiekerkötter, Ursula Strittmatter, Alena G. Thiele, Athanasia Ziagaki, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Stefan Kölker

المصدر: Journal of inherited metabolic diseaseREFERENCES. 45(6)

مصطلحات موضوعية: Phenylketonuria, Maternal, Phenylalanine, Pregnancy Outcome, Child Behavior, Syndrome, Diet, Pregnancy, Phenylketonurias, Genetics, Humans, Female, Child, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73c92a48559927d2d1c35868aad7268
https://pubmed.ncbi.nlm.nih.gov/36054426

المؤلفون: Martin Schwarz, Julia B. Hennermann, Stephan vom Dahl, Annemarie Klimek, Ursula Plöckinger, Frank Rutsch, Margret Heddrich-Ellerbrok, F Lang, Klaus Schöne, Markus Ott, Klaus G Parhofer, Christoph Baerwald

المصدر: Annals of Nutrition and Metabolism. 76:251-258

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Cross-sectional study, Health Status, Phenylalanine, Medicine (miscellaneous), Living situation, Professional status, Young Adult, Quality of life, Phenylketonurias, Surveys and Questionnaires, Activities of Daily Living, Diet, Protein-Restricted, Prevalence, Humans, Childbirth, Medicine, Amino acid intake, Amino Acids, Everyday life, Nutrition and Dietetics, Depression, business.industry, Dietary management, Feeding Behavior, Middle Aged, Cross-Sectional Studies, Dietary Supplements, Quality of Life, Patient Compliance, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::852231ae3a07cc63aac22023656ad221
https://doi.org/10.1159/000510260

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7938b8f45f942ba77838bd72abd58add
http://www.sciencedirect.com/science/article/pii/S2214426921000653

المؤلفون: Margret Heddrich-Ellerbrok, Vanessa Korpel, Carmen Rohde, Anibh M. Das, Katharina Dokoupil, Dinah Lier, Dorothea Möslinger, Stephan vom Dahl, Aleksandra Fischer, U. Meyer, Friederike Bärhold, Skadi Beblo, Eva Thimm, Sebene Mayorandan, Stefanie Rosenbaum-Fabian, Agnes van Teeffelen-Heithoff, Janina Lahl, Anne-Kathrin Neugebauer, Anna Fekete, Nina Bogovic, Monika Jörg-Streller, Michel Hochuli, Peter Freisinger, Ulrike Och

المصدر: Nutrients
Nutrients, Vol 13, Iss 134, p 134 (2021)
Volume 13
Issue 1

مصطلحات موضوعية: Male, 0301 basic medicine, Nitisinone, phenylalanine, medicine.medical_treatment, 030105 genetics & heredity, 0302 clinical medicine, low protein diet, Germany, Surveys and Questionnaires, Prospective Studies, Enzyme Inhibitors, Tyrosine, tyrosinaemia type 1, Child, Prospective cohort study, Nutrition and Dietetics, Tyrosinemias, Combined Modality Therapy, Treatment Outcome, Austria, Child, Preschool, Practice Guidelines as Topic, Female, Dietary Proteins, lcsh:Nutrition. Foods and food supply, Switzerland, medicine.drug, medicine.medical_specialty, Adolescent, lcsh:TX341-641, compliance, Article, Young Adult, 03 medical and health sciences, Therapeutic approach, Low-protein diet, Internal medicine, inborn error of metabolism, Diet, Protein-Restricted, medicine, Humans, Retrospective Studies, Cyclohexanones, business.industry, Retrospective cohort study, medicine.disease, Inborn error of metabolism, Nitrobenzoates, Metabolic control analysis, Patient Compliance, business, hepatorenal tyrosinaemia, 030217 neurology & neurosurgery, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::668eb34e15bb299b6fa18cc6ad57511d
https://doi.org/10.3390/nu13010134