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1دورية أكاديمية
المؤلفون: Sarah Catharina Grünert, Stefanie Rosenbaum‐Fabian, Anke Schumann, Anne‐Christine Selbitz, Waltraut Merz, Andrea Gieselmann, Ute Spiekerkoetter
المصدر: JIMD Reports, Vol 63, Iss 4, Pp 303-308 (2022)
مصطلحات موضوعية: empagliflozin, G‐CSF, glucose‐6‐phosphate transporter, glycogen storage disease type Ib, GSD Ib, pregnancy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2دورية 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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3دورية أكاديمية
المؤلفون: Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Glycogen storage disease type Ib, Neutropenia, Neutrophil dysfunction, Empagliflozin, Wound healing, Inflammatory bowel disease, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, Anke Schumann, Ute Spiekerkoetter
المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100770- (2021)
مصطلحات موضوعية: Glycogen storage disease type 6, GSD VI, Pregnancy, Ketotic glycogen storage disease, Glycogen phosphorylase deficiency, PYGL, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Anke Schumann, Karl Otfried Schwab, Nadja Mingirulli, Ute Spiekerkoetter
المصدر: Nutrition Journal, Vol 17, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: Maple syrup urine disease, MSUD, Pregnancy, Leucine tolerance, Protein tolerance, Branched-chain amino acids, Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter
المصدر: Diagnostics, Vol 11, Iss 3, p 500 (2021)
مصطلحات موضوعية: glycogen metabolism, splice variant, glycogen phosphorylase, PYGL, transcriptome analysis, in silico analysis, Medicine (General), R5-920
وصف الملف: electronic resource
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7دورية 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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8دورية 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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9دورية أكاديمية
المؤلفون: Julia Hinkel, Johannes Schmitt, Michael Wurm, Stefanie Rosenbaum-Fabian, Karl Otfried Schwab, Donald W. Jacobsen, Ute Spiekerkoetter, Sergey N. Fedosov, Luciana Hannibal, Sarah C. Grünert
المصدر: Journal of Clinical Medicine, Vol 9, Iss 8, p 2326 (2020)
مصطلحات موضوعية: glycogen storage disease, glycogen, vitamin B12, cobalamin, liver transaminases, vitamin B12 intake, Medicine
وصف الملف: electronic resource
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10
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