Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Eva Thimm"'
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
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:
Ellada Sotiridou, Henrike Hoermann, Sommayya Aftab, Antonia Dastamani, Eva Thimm, Louise Doodson, Spyros Batzios, Sebastian Kummer, Pratik Shah
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-4 (2021)
Tyrosinaemia type 1 (TT1) is a rare inherited disorder of amino acid metabolism typically presenting with liver failure and renal tubular dysfunction. We describe three individuals with TT1 and transient hyperinsulinaemic hypoglycaemia (HH). Two sibl
Externí odkaz:
https://doaj.org/article/13c3a7629cc84fa59a35adedd4041721
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:
Ulrike Mütze, Sven F. Garbade, Florian Gleich, Martin Lindner, Peter Freisinger, Julia B. Hennermann, Eva Thimm, Gwendolyn Gramer, Roland Posset, Johannes Krämer, Sarah C. Grünert, Georg F. Hoffmann, Stefan Kölker
Publikováno v:
Journal of Inherited Metabolic Disease. 46:15-27
Newborn screening (NBS) for inherited metabolic diseases (IMDs) substantially shortens a patient's journey. It enables the early start of metabolic treatment which might prevent potentially lethal neonatal disease manifestations, while promoting favo
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
Autor:
Ertan Mayatepek, Eva Thimm
Publikováno v:
Monatsschrift Kinderheilkunde. 169:231-236
Autor:
Stefan Kölker, Roland Posset, Ulrike Mütze, Mareike Keller, Julia B. Hennermann, Jürgen G. Okun, Dorothea Haas, Gwendolyn Gramer, Junmin Fang-Hoffmann, Steffen Syrbe, Sarah C. Grünert, Eva Thimm, Magdalena Walter, Sven F. Garbade, Florian Gleich, Georg F. Hoffmann
Publikováno v:
The Journal of Pediatrics. 235:42-48
Objective To evaluate the clinical outcomes at age 1.5 ± 0.5 years of infants with vitamin B12 deficiency identified by newborn screening (NBS). Study design Prospective multicenter observational study on health outcomes of 31 infants with vitamin B
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:
David Schöler, JanPhilipp Köhler, Petra May, Eva Thimm, Ertan Mayatepek, Tom Luedde, Stephan vom Dahl
Publikováno v:
Zeitschrift für Gastroenterologie.