Showing 1 - 19 results of 19 for search 'C. Grunert', query time: 0.31s
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Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces by Sarah C. Grünert, Jörn Oliver Sass
Published 2022-01-01
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Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey by Marit Schwantje, Sarah C. Grünert, Sabine A. Fuchs
Published 2024-01-01
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A Homozygous Deletion of Exon 5 of <i>KYNU</i> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome by Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Published 2021-06-01
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Isolated Hypomethylation of <i>IGF2</i> Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment by Sarah C. Grünert, Uta Matysiak, Franka Hodde, Gunda Ruzaike, Ekkehart Lausch, Anke Schumann, Natascha van der Werf-Grohmann, Ute Spiekerkoetter, Miriam Schmidts
Published 2021-04-01
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Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families by Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter
Published 2021-03-01
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Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders by Khaled I. Alatibi, Stefan Tholen, Zeinab Wehbe, Judith Hagenbuchner, Daniela Karall, Michael J. Ausserlechner, Oliver Schilling, Sarah C. Grünert, Jerry Vockley, Sara Tucci
Published 2021-09-01
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Elevated Plasma Vitamin B<sub>12</sub> in Patients with Hepatic Glycogen Storage Diseases by 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
Published 2020-07-01
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Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine: Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention by Aida Corrillero Bravo, Maria Nieves Ligero Aguilera, Nahuel R. Marziali, Lennart Moritz, Victoria Wingert, Katharina Klotz, Anke Schumann, Sarah C. Grünert, Ute Spiekerkoetter, Urs Berger, Ann-Kathrin Lederer, Roman Huber, Luciana Hannibal
Published 2022-04-01
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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs by Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell
Published 2021-10-01
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Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders by 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
Published 2024-04-01
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