Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Gera Peters"'
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8
Publikováno v:
Neurology International, Vol 2, Iss 1, Pp e4-e4 (2010)
Fatigue and exercise intolerance are symptoms in children with metabolic myopathy. Frequently this is combined with muscle pain in children with mitochondrial myopathy. Offering therapeutic advice remains challenging in this patient group. Here we de
Externí odkaz:
https://doaj.org/article/7fbc093eddc44a27aaa2ab8c63be51de
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
den Hollander, B, Rasing, A, Post, M A, Klein, W M, Oud, M M, Brands, M M, de Boer, L, Engelke, U F H, van Essen, P, Fuchs, S A, Haaxma, C A, Jensson, B O, Kluijtmans, L A J, Lengyel, A, Lichtenbelt, K D, Østergaard, E, Peters, G, Salvarinova, R, Simon, M E H, Stefansson, K, Thorarensen, Ó, Ulmen, U, Coene, K L M, Willemsen, M A, Lefeber, D J & Karnebeek, C D M V 2021, ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ', Frontiers in Neurology, vol. 12, 668640 . https://doi.org/10.3389/fneur.2021.668640
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43c25ea99a3697185811c0f8e3e2464
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html
Autor:
Gera Peters, Eva Morava, Jan A.M. Smeitink, Imelda J. M. de Groot, Saskia Koene, Livia Kapusta, Richard J. Rodenburg, Chris M. Verhaak
Publikováno v:
Journal of Pediatric Neurology. :345-350
In case of non-specific and relatively mild muscle symptoms, the diagnosis of an inborn error of metabolism could be easily missed. Muscle pain can be the first sign of a mitochondrial disorder, especially in combination with motor developmental dela
Publikováno v:
Kinderfysiotherapie ISBN: 9789036815918
Kinderfysiotherapie
Kinderfysiotherapie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::096a82beeb668ab5164aa119c8f0ae4f
https://doi.org/10.1007/978-90-368-1592-5_29
https://doi.org/10.1007/978-90-368-1592-5_29
Publikováno v:
Neurology International
Volume 2
Issue 1
Neurology International, Vol 2, Iss 1, Pp e4-e4 (2010)
Volume 2
Issue 1
Neurology International, Vol 2, Iss 1, Pp e4-e4 (2010)
Fatigue and exercise intolerance are symptoms in children with metabolic myopathy. Frequently this is combined with muscle pain in children with mitochondrial myopathy. Offering therapeutic advice remains challenging in this patient group. Here we de
Autor:
M.W.G. Nijhuis-van der Sanden, L. T. W. Schreuder, L. A. Bok, A. de Hair, Saskia B. Wortmann, Gera Peters, Eva Morava
Publikováno v:
Journal of Inherited Metabolic Disease
Albuterol, a selective beta-adrenergic agonist, has been used experimentally in combination with exercise therapy in a few inherited neuromuscular disorders to increase muscle strength and muscle volume . We report on a 9-year-old boy with central co