Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins

بواسطة Schmiesing, Jessica, Schlüter, Hartmut, Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris
منشور في 2014

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

بواسطة Lamp, Jessica, Keyser, Britta, Koeller, David M., Ullrich, Kurt, Braulke, Thomas, Mühlhausen, Chris
منشور في 2011

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...

بواسطة Mühlhausen, Chris, Henneke, Lisa, Schlotawa, Lars, Behme, Daniel, Grüneberg, Marianne, Gärtner, Jutta, Marquardt, Thorsten
الحاوية / القاعدة JIMD Rep (2020)

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

بواسطة du Moulin, Marcel, Thies, Bastian, Blohm, Martin, Oh, Jun, Kemper, Markus J., Santer, René, Mühlhausen, Chris
الحاوية / القاعدة JIMD Rep (2017)

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

بواسطة 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
الحاوية / القاعدة JIMD Rep (2016)

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

بواسطة 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
الحاوية / القاعدة JIMD Rep (2017)

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness

بواسطة 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
الحاوية / القاعدة Dtsch Arztebl Int (2019)

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

بواسطة 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
الحاوية / القاعدة EMBO Mol Med (2021)

Diagnosis and management of glutaric aciduria type I – revised recommendations

بواسطة 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
منشور في 2011

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

بواسطة Kremer, Laura S., Distelmaier, Felix, Alhaddad, Bader, Hempel, Maja, Iuso, Arcangela, Küpper, Clemens, Mühlhausen, Chris, Kovacs-Nagy, Reka, Satanovskij, Robin, Graf, Elisabeth, Berutti, Riccardo, Eckstein, Gertrud, Durbin, Richard, Sauer, Sascha, Hoffmann, Georg F., Strom, Tim M., Santer, René, Meitinger, Thomas, Klopstock, Thomas, Prokisch, Holger, Haack, Tobias B.
الحاوية / القاعدة Am J Hum Genet (2016)

Lysine Glutarylation Is a Protein Post-Translational Modification Regulated by SIRT5

بواسطة 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
منشور في 2014