Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Chris, Mühlhausen"'
Autor:
E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observation
Externí odkaz:
https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7
Autor:
Kalliopi Sofou, Kolja Meier, Leslie E Sanderson, Debora Kaminski, Laia Montoliu‐Gaya, Emma Samuelsson, Maria Blomqvist, Lotta Agholme, Jutta Gärtner, Chris Mühlhausen, Niklas Darin, Tahsin Stefan Barakat, Lars Schlotawa, Tjakko van Ham, Jorge Asin Cayuela, Fredrik H Sterky
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp 1-21 (2021)
Abstract Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delay
Externí odkaz:
https://doaj.org/article/4136db5871f54bce829ae48563537d48
Autor:
Chris Mühlhausen, Lisa Henneke, Lars Schlotawa, Daniel Behme, Marianne Grüneberg, Jutta Gärtner, Thorsten Marquardt
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 38-43 (2020)
Abstract Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG; formerly named CDG type 1b) is characterized by the clinical triad of hepatopathy, protein‐losing enteropathy, and hyperinsulinemic hypoglycemia in c
Externí odkaz:
https://doaj.org/article/c9c66d080ae6452293a4977f6ec20bc8
Autor:
Jessica Schmiesing, Stephan Storch, Ann-Cathrin Dörfler, Michaela Schweizer, Georgia Makrypidi-Fraune, Melanie Thelen, Marc Sylvester, Volkmar Gieselmann, Catherine Meyer-Schwesinger, Friedrich Koch-Nolte, Henning Tidow, Chris Mühlhausen, Abdul Waheed, William S. Sly, Thomas Braulke
Publikováno v:
Cell Reports, Vol 24, Iss 11, Pp 2946-2956 (2018)
Summary: Lysine glutarylation (Kglu) of mitochondrial proteins is associated with glutaryl-CoA dehydrogenase (GCDH) deficiency, which impairs lysine/tryptophan degradation and causes destruction of striatal neurons during catabolic crisis with subseq
Externí odkaz:
https://doaj.org/article/b3476a6f49174f2f967f25a8a25f0543
Autor:
E. M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Roloff, Iris Marquardt, Anibh M. Das, Peter Freisinger, Sarah C. Grünert, Johannes Krämer, Matthias R. Baumgartner, Skadi Beblo, Claudia Haase, Andrea Dieckmann, Martin Lindner, Andrea Näke, Georg F. Hoffmann, Chris Mühlhausen, Magdalena Walter, Sven F. Garbade, Esther M. Maier, Stefan Kölker, Nikolas Boy
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/3837f7cd38f441429ff83e0d21a3a715
Autor:
Chris Mühlhausen, Peter Freisinger, Eva Thimm, Frank Rutsch, Skadi Beblo, Georg F. Hoffmann, Sylvia Roloff, Magdalena Walter, Stefan Kölker, Katharina A. Schiergens, Andrea Näke, Philipp Guder, Sven F. Garbade, Matthias R. Baumgartner, Esther M. Maier, Sarah C. Grünert, Anibh M. Das, Johannes Krämer, Nikolas Boy, Martin Lindner, Iris Marquardt, E. M. Charlotte Märtner, Claudia Haase, Andrea Dieckmann
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
Scientific Reports
The aim of the study was a systematic evaluation of cognitive development in individuals with glutaric aciduria type 1 (GA1), a rare neurometabolic disorder, identified by newborn screening in Germany. This national, prospective, observational, multi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276bcf91d4e6db49568b48dfdab188e4
https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7
https://doaj.org/article/da32808a76694de6ae0aa2dc357545d7
Autor:
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
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(6)
To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations (target range, 120-360 μmol/L) during pregnancy are recommended for women with PKU. We evaluated the feasibility and effectiveness of current recommendations and ide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d73c92a48559927d2d1c35868aad7268
https://pubmed.ncbi.nlm.nih.gov/36054426
https://pubmed.ncbi.nlm.nih.gov/36054426
Autor:
Bianca Dimitrov, Monique Williams, Femke Molema, Anke Schumann, Jessica Schmiesing, Stefan Kölker, Matthias R. Baumgartner, Chris Mühlhausen
Publikováno v:
Journal of Inherited Metabolic Disease, 44(1), 9-21. Springer Netherlands
Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7046ed8623825145714fddb54ff17b79
http://www.scopus.com/inward/record.url?scp=85085468356&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85085468356&partnerID=8YFLogxK
Autor:
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
Publikováno v:
Journal of Inherited Metabolic Disease, 46(3), 482-519. Springer Netherlands
Glutaric aciduria type 1 is a rare inherited neurometabolic disorder of lysine metabolism caused by pathogenic gene variations in GCDH (cytogenic location: 19p13.13), resulting in deficiency of mitochondrial glutaryl-CoA dehydrogenase (GCDH) and, con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f6ef87fc504ebacfb0b3bcdd096814d
Autor:
Ulrike Mütze, Florian Gleich, Ivo Barić, Mathias Baumgartner, Alberto Burlina, Kimberly A. Chapman, Yin‐Hsiu Chien, Elisenda Cortès‐Saladelafont, Corinne De Laet, Dries Dobbelaere, Francois Eysken, Matthias Gautschi, Rene Santer, Johannes Häberle, Clara Joaquín, Daniela Karall, Martin Lindner, Allan M. Lund, Chris Mühlhausen, Elaine Murphy, Dominique Roland, Angeles Ruiz Gomez, Anastasia Skouma, Sarah C. Grünert, Margreet Wagenmakers, Sven F. Garbade, Stefan Kölker, Nikolas Boy
Publikováno v:
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 46(2), 220-231. Springer Netherlands
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S & Boy, N 2023, ' Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 220-231 . https://doi.org/10.1002/jimd.12572
Journal of Inherited Metabolic Disease, 46(2), 220-231. Springer Netherlands
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S & Boy, N 2023, ' Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 220-231 . https://doi.org/10.1002/jimd.12572
The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa0c68404c358583f1514a04e70a1ea6