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1دورية أكاديمية
المؤلفون: Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos, Skadi Beblo
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Maternal PKU syndrome, Phenylketonuria, Training program, mPKU, Maternal PKU, Pregnancy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المصدر: Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
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
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4دورية أكاديمية
المؤلفون: Carmen Rohde, Alena Gerlinde Thiele, Ulrike Och, Katrin Schönherr, Uta Meyer, Stefanie Rosenbaum-Fabian, Cornelia Maddalon, Sabine Matzken, Holger Blessing, Frauke Lang, Monika Jörg-Streller, Skadi Beblo
المصدر: Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 36-41 (2015)
مصطلحات موضوعية: Dietary regime, Phenylketonuria, Phenylalanine, Metabolic control, Phe-intake, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Tobias Fischer, Ulrike Och, Ira Klawon, Tim Och, Marianne Grüneberg, Manfred Fobker, Ursula Bordewick-Dell, Thorsten Marquardt
المصدر: Journal of Nutrition and Metabolism, Vol 2018 (2018)
مصطلحات موضوعية: Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Reinhold Feldmann, Ulrike Och, Lisa Sophie Beckmann, Josef Weglage, Frank Rutsch
المصدر: MDPI, IJERPH. 21(4):1-9
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7
المؤلفون: Anja Penkl, Janine Reunert, Otfried M. Debus, Anna Homann, Ulrike Och, Stephan Rust, Thorsten Marquardt
المصدر: American Journal of Medical Genetics Part A. 188:941-947
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المؤلفون: Ulrike Och, Anja Seelhöfer, Jana C. Hollenbeck, Melanie Meyer, Jörn Oliver Sass, Mechthild Linden, Stephan Rust, Saskia Biskup, Manfred Fobker, Janine Reunert, Thorsten Marquardt
المصدر: Journal of Inherited Metabolic Disease
J Inherit Metab Dis. 2021;44:1323 – 1329مصطلحات موضوعية: Male, medicine.medical_specialty, Hydroxybutyrates, Dehydrogenase, Diagnosis, Differential, Excretion, 3 hydroxyisobutyric aciduria, Valine, Internal medicine, Genetics, medicine, Humans, ddc:610, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), chemistry.chemical_classification, Metabolic disorder, Infant, medicine.disease, Phenotype, Amino acid, Alcohol Oxidoreductases, Enzyme, Endocrinology, chemistry, Child, Preschool, Female
وصف الملف: application/pdf
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9
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
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10
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 Gruyterمصطلحات 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
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277