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1دورية أكاديمية
المؤلفون: Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2328-9503
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2
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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3
المؤلفون: Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Peter Burgard, Kimberly A. Chapman, Dries Dobbelaere, Jana Heringer‐Seifert, Sandra Fleissner, Karina Grohmann‐Held, Gabriele Hahn, Inga Harting, Georg F. Hoffmann, Frank Jochum, Daniela Karall, Vassiliki Konstantopoulous, Michael B. Krawinkel, Martin Lindner, E. M. Charlotte Märtner, Jean‐Marc Nuoffer, Jürgen G. Okun, Barbara Plecko, Roland Posset, Katja Sahm, Sabine Scholl‐Bürgi, Eva Thimm, Magdalena Walter, Monique Williams, Stephan vom Dahl, Athanasia Ziagaki, Johannes Zschocke, Stefan Kölker
المساهمون: Pediatrics
المصدر: Journal of Inherited Metabolic Disease, 46(3), 482-519. Springer Netherlands
مصطلحات موضوعية: SDG 3 - Good Health and Well-being, Genetics, 610 Medicine & health, Genetics (clinical)
وصف الملف: application/pdf
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4
المؤلفون: Stefan Kölker, Georg F. Hoffmann, Julia B. Hennermann, Peter Freisinger, Sarah C. Grünert, Michael Leichsenring, Friederike Hörster, Peter Burgard, Sven F. Garbade, Nikolas Boy, Gwendolyn Gramer, Magdalena Walter, Regina Ensenauer, Martin Lindner, Karina Grohmann-Held, Ulrike Mütze, Junmin Fang-Hoffmann, Judith Zirnbauer, Eva Thimm, Florian Gleich
المصدر: Pediatrics. 146(5)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Time Factors, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, Metabolic Diseases, 030225 pediatrics, Phenylketonurias, Long term outcomes, Medicine, Humans, Decompensation, Favorable outcome, Prospective Studies, Prospective cohort study, Process quality, Newborn screening, business.industry, Infant, Newborn, Pediatrics, Perinatology and Child Health, Observational study, Female, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8297042de2c372c986f410899db0677
https://pubmed.ncbi.nlm.nih.gov/33051225 -
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المصدر: Neuropediatrics. 46(2)
مصطلحات موضوعية: Male, Orotic acid, medicine.medical_specialty, Anemia, Megaloblastic, Anemia, Orotate Phosphoribosyltransferase, Orotidine-5'-Phosphate Decarboxylase, Hereditary Orotic Aciduria, Gastroenterology, Epilepsy, Urinary excretion, Metabolic Diseases, Multienzyme Complexes, UMPS DEFICIENCY, Internal medicine, medicine, Humans, Metabolic disease, Megaloblastic anemia, Orotic Acid, business.industry, General Medicine, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f234168b6f0dfeede56298e29d86e3
https://pubmed.ncbi.nlm.nih.gov/25803822 -
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المؤلفون: Matthias Nauck, Ada Goerlach-Graw, Cornelia Müller, Ingrid Kadow, Boris Rolinski, H. Küster, Markus Roser, Karina Grohmann
المصدر: Pediatrics. 117:1174-1183
مصطلحات موضوعية: Male, Analyte, Pediatrics, medicine.medical_specialty, Bilirubin, Sensitivity and Specificity, chemistry.chemical_compound, Neonatal Screening, Predictive Value of Tests, medicine, Humans, Skin, Chromatography, business.industry, Infant, Newborn, Skin test, Jaundice, medicine.disease, Bilirubin measurement, ROC Curve, chemistry, Pediatrics, Perinatology and Child Health, Kernicterus, Female, Hyperbilirubinemia, Neonatal, medicine.symptom, Bilirubin levels, business, Blood sampling
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5cdfe24aee5e1169ecb437e3b11008c
https://doi.org/10.1542/peds.2005-0590