检索结果 - Mühlhausen, Chris

Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins 由 Schmiesing, Jessica, Schlüter, Hartmut, Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris

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Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells 由 Lamp, Jessica, Keyser, Britta, Koeller, David M., Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris

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Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatab... 由 Mühlhausen, Chris, Henneke, Lisa, Schlotawa, Lars, Behme, Daniel, Grüneberg, Marianne, Gärtner, Jutta, Marquardt, Thorsten

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Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms 由 du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris

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Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents 由 Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina

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Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism 由 Zeltner, Nina A., Baumgartner, Matthias R., Bondarenko, Aljona, Ensenauer, Regina, Karall, Daniela, Kölker, Stefan, Mühlhausen, Chris, Scholl-Bürgi, Sabine, Thimm, Eva, Quitmann, Julia, Burgard, Peter, Landolt, Markus A., Huemer, Martina

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Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness 由 A. Mahler, Elisa, Johannsen, Jessika, Tsiakas, Konstantinos, Kloth, Katja, Lüttgen, Sabine, Mühlhausen, Chris, Alhaddad, Bader, B. Haack, Tobias, M. Strom, Tim, Kortüm, Fanny, Meitinger, Thomas, C. Muntau, Ania, Santer, René, Kubisch, Christian, Lessel, Davor, Denecke*, Jonas, Hempel*, Maja

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Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease 由 Sofou, Kalliopi, Meier, Kolja, Sanderson, Leslie E, Kaminski, Debora, Montoliu‐Gaya, Laia, Samuelsson, Emma, Blomqvist, Maria, Agholme, Lotta, Gärtner, Jutta, Mühlhausen, Chris, Darin, Niklas, Barakat, Tahsin Stefan, Schlotawa, Lars, van Ham, Tjakko, Asin Cayuela, Jorge, Sterky, Fredrik H

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Diagnosis and management of glutaric aciduria type I – revised recommendations 由 Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study 由 Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas

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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study 由 Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas

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Lysine Glutarylation Is a Protein Post-Translational Modification Regulated by SIRT5 由 Tan, Minjia, Peng, Chao, Anderson, Kristin A., Chhoy, Peter, Xie, Zhongyu, Dai, Lunzhi, Park, Jeong Soon, Chen, Yue, Huang, He, Zhang, Yi, Ro, Jennifer, Wagner, Gregory R., Green, Michelle F., Madsen, Andreas S., Schmiesing, Jessica, Peterson, Brett S., Xu, Guofeng, Ilkayeva, Olga R., Muehlbauer, Michael J., Braulke, Thomas, Mühlhausen, Chris, Backos, Donald S., Olsen, Christian A., McGuire, Peter J., Pletcher, Scott D., Lombard, David B., Hirschey, Matthew D., Zhao, Yingming

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