Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Nikolas Boy"'
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:
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:
Nikolas Boy, Jana Heringer, Renate Brackmann, Olaf Bodamer, Angelika Seitz, Stefan Kölker, Inga Harting
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-13 (2017)
Abstract Background Without neonatal initiation of treatment, 80–90% of patients with glutaric aciduria type 1 (GA1) develop striatal injury during the first six years of life resulting in a complex, predominantly dystonic movement disorder. Onset
Externí odkaz:
https://doaj.org/article/ab9c771894e4476fa501ad0826f01b65
Publikováno v:
Journal of Inherited Metabolic Disease. 46:391-405
Autor:
Inga Harting, Peter Freisinger, Stefan Kölker, Nikolas Boy, Jana Heringer-Seifert, Angelika Seitz, Alexander Mohr, Sven F. Garbade
Publikováno v:
Journal of Inherited Metabolic Disease. 44:1343-1352
Subdural hematoma (SDH) was initially reported in 20% to 30% of patients with glutaric aciduria type 1 (GA1). A recent retrospective study found SDH in 4% of patients, but not in patients identified by newborn screening (NBS). 168 MRIs of 69 patients
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:
Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefan Kölker
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 45(5)
Newborn screening (NBS) is an important secondary prevention program, aiming to shift the paradigm of medicine to the pre-clinical stage of a disease. Starting more than 50 years ago, technical advances, such as tandem mass spectrometry (MS/MS), pave
Autor:
Georg F. Hoffmann, Jana Heringer-Seifert, Stefan Kölker, Katharina Mengler, Sven F. Garbade, Nikolas Boy
Publikováno v:
Genetics in Medicine
Purpose Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended th
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