Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Katharina A. Schiergens"'
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:
Amelie S. Lotz-Havla, Katharina J. Weiß, Katharina A. Schiergens, Theresa Brunet, Jürgen Kohlhase, Stephanie Regenauer-Vandewiele, Esther M. Maier
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Cobalamin (cbl)-related remethylation disorders are a heterogeneous group of inherited disorders comprising the remethylation of homocysteine to methionine and affecting multiple organ systems, most prominently the nervous system
Externí odkaz:
https://doaj.org/article/8d5fce646f904af18efa0edc44a89bef
Autor:
Katharina A. Schiergens, Katharina J. Weiss, Wulf Röschinger, Amelie S. Lotz-Havla, Joachim Schmitt, Robert Dalla Pozza, Sarah Ulrich, Birgit Odenwald, Joachim Kreuder, Esther M. Maier
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100776- (2021)
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening par
Externí odkaz:
https://doaj.org/article/5f0d5e05e2394367adf0bad45b47bf81
Autor:
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 1, p 2 (2021)
There was an error in the original publication [...]
Externí odkaz:
https://doaj.org/article/177f459784c44219bfd4f199aa33be6a
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:
Johannes Spenger, Esther M. Maier, Katharina Wechselberger, Florian Bauder, Melanie Kocher, Wolfgang Sperl, Martin Preisel, Katharina A. Schiergens, Vassiliki Konstantopoulou, Wulf Röschinger, Johannes Häberle, Thomas Schmitt-Mechelke, Saskia B. Wortmann, Ralph Fingerhut
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 32 (2021)
Glutaric aciduria type I (GA-1) is a rare autosomal-recessive disorder of the degradation of the amino acids lysine and tryptophan caused by mutations of the GCDH gene encoding glutaryl-CoA-dehydrogenase. Newborn screening (NBS) for this condition is
Externí odkaz:
https://doaj.org/article/00cca2b73ee941ecb017aaf1e5b7dfb6
Autor:
Sandra Fleissner, Esther M. Maier, Katharina J. Weiß, Katharina Dokoupil, Katharina A. Schiergens
Publikováno v:
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz. 63:864-871
ZusammenfassungBei vielen angeborenen Stoffwechselkrankheiten ist eine lebensbegleitende Diät von Geburt an fester Bestandteil der Therapie. Alternative medikamentöse Therapieansätze stehen erst für einige wenige Patienten zur Verfügung. Am Beis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e18fff0c07f7c18fbc6622688eb8921
https://doi.org/10.1007/s00103-020-03168-x
https://doi.org/10.1007/s00103-020-03168-x
Autor:
Eva Thimm, Claudia Haase, Andrea Dieckmann, Skadi Beblo, E. M. Charlotte Märtner, Stefan Kölker, Katharina A. Schiergens, Georg F. Hoffmann, Frank Rutsch, Sarah C. Grünert, Johannes Krämer, Nikolas Boy, Andrea Näke, Esther M. Maier, Philipp Guder, Chris Mühlhausen, Iris Marquardt, Anibh M. Das, Martin Lindner, Sylvia Roloff, Sven F. Garbade, Magdalena Walter, Matthias R. Baumgartner, Peter Freisinger
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed0e027a663738e1207366e0c1233019
https://doi.org/10.1055/s-0041-1739688
https://doi.org/10.1055/s-0041-1739688
Autor:
Chris Mühlhausen, Katharina Mengler, Eva Thimm, Martin Lindner, Stefan Kölker, Anibh M. Das, Regina Ensenauer, E. M. Charlotte Märtner, Esther M. Maier, Jana Heringer-Seifert, Dominic Lenz, Matthias R. Baumgartner, Judith Vossbeck, Peter Freisinger, Sven F. Garbade, Skadi Beblo, Katharina A. Schiergens, Robert Steinfeld, Sarah C. Grünert, Iris Marquardt, Natalie Weinhold, René Santer, Andrea Dieckmann, Georg F. Hoffmann, Andrea Näke, Nikolas Boy, Thorsten Marquardt
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl-CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836fe88d3678d450558b132b3cdb0906
https://www.zora.uzh.ch/id/eprint/195360/
https://www.zora.uzh.ch/id/eprint/195360/
Autor:
S. Ulrich, Joachim Kreuder, Wulf Röschinger, Robert Dalla Pozza, Birgit Odenwald, Esther M. Maier, Katharina J. Weiss, Joachim Schmitt, Katharina A. Schiergens, Amelie S. Lotz-Havla
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100776-(2021)
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100776-(2021)
Carnitine transporter defect (CTD) is a potentially life-threatening disorder causing acute metabolic decompensation, cardiac arrhythmia, and cardiac and skeletal myopathies. CTD is included in many newborn screening (NBS) programs. The screening par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ace8b9451e1473b027d18b0680ab4f00
https://pubmed.ncbi.nlm.nih.gov/34178604
https://pubmed.ncbi.nlm.nih.gov/34178604