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pro vyhledávání: '"Mendy, M."'
Akademický článek
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Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ed4f87ab5e09425ab15c3a2e8a468511
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and sho
Externí odkaz:
https://doaj.org/article/59dbbee28c694cbeb9573c105db3cdb8
Autor:
Nina A. Zeltner, Mendy M. Welsink-Karssies, Markus A. Landolt, Dominique Bosshard-Bullinger, Fabia Keller, Annet M. Bosch, Marike Groenendijk, Sarah C. Grünert, Daniela Karall, Beatrix Rettenbacher, Sabine Scholl-Bürgi, Matthias R. Baumgartner, Martina Huemer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression and / or potentially
Externí odkaz:
https://doaj.org/article/7ad9dfe0aca343d78273dc9f8636981e
Autor:
Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom, Gert J. Geurtsen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review was to investigate th
Externí odkaz:
https://doaj.org/article/10269b5505884ed7bbaccf81863181b8
Autor:
Merel E. Hermans, Michel van Weeghel, Frédéric M. Vaz, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, André B. P. van Kuilenburg, Mia L. Pras‐Raves, Mirjam M. C. Wamelink, Ronald J. A. Wanders, Mendy M. Welsink‐Karssies, Annet M. Bosch
Publikováno v:
Hermans, M E, van Weeghel, M, Vaz, F M, Ferdinandusse, S, Hollak, C E M, Huidekoper, H H, Janssen, M C H, van Kuilenburg, A B P, Pras-Raves, M L, Wamelink, M M C, Wanders, R J A, Welsink-Karssies, M M & Bosch, A M 2022, ' Multi-omics in classical galactosemia : Evidence for the involvement of multiple metabolic pathways ', Journal of Inherited Metabolic Disease, vol. 45, no. 6, pp. 1094-1105 . https://doi.org/10.1002/jimd.12548
Journal of inherited metabolic disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45, 1094-1105
Journal of Inherited Metabolic Disease, 45, 6, pp. 1094-1105
Journal of inherited metabolic disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45, 1094-1105
Journal of Inherited Metabolic Disease, 45, 6, pp. 1094-1105
Contains fulltext : 286854.pdf (Publisher’s version ) (Open Access) Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patien
Akademický článek
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Autor:
Welsink-Karssies, Mendy M.1 (AUTHOR), Oostrom, Kim J.2 (AUTHOR), Hermans, Merel E.3 (AUTHOR), Hollak, Carla E. M.4 (AUTHOR), Janssen, Mirian C. H.5 (AUTHOR), Langendonk, Janneke G.6 (AUTHOR), Oussoren, Esmee7 (AUTHOR), Gozalbo, M. Estela Rubio8 (AUTHOR), de Vries, Maaike9 (AUTHOR), Geurtsen, Gert J.3 (AUTHOR), Bosch, Annet M.1 (AUTHOR) a.m.bosch@amsterdamumc.nl, Rubio Gozalbo, M Estela8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 2/7/2020, Vol. 15 Issue 1, p1-13. 13p.
Autor:
Zeltner, Nina A.1,2,3,4 (AUTHOR), Welsink-Karssies, Mendy M.5 (AUTHOR), Landolt, Markus A.2,3,4 (AUTHOR), Bosshard-Bullinger, Dominique1,2,3,4 (AUTHOR), Keller, Fabia1,2,3,4 (AUTHOR), Bosch, Annet M.5 (AUTHOR), Groenendijk, Marike6 (AUTHOR), Grünert, Sarah C.7 (AUTHOR), Karall, Daniela8 (AUTHOR), Rettenbacher, Beatrix9 (AUTHOR), Scholl-Bürgi, Sabine8 (AUTHOR), Baumgartner, Matthias R.1,3 (AUTHOR), Huemer, Martina1,3,10 (AUTHOR) martina.huemer@kispi.uzh.ch
Publikováno v:
Orphanet Journal of Rare Diseases. 11/8/2019, Vol. 14 Issue 1, p1-9. 9p.
Akademický článek
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