Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Wim Brussel"'
Publikováno v:
Journal of Pediatric Neurology. :233-237
We present a case of a boy with recurrent left-sided hemiparesis. Early magnetic resonance imaging showed features suggesting acute disseminated encephalomyelitis (ADEM). However, he deteriorated neurologically on high dose methylprednisolone. A foll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee5cfdde3ebcc5e80991c33e44b7c9aa
https://doi.org/10.3233/jpn-2011-0464
https://doi.org/10.3233/jpn-2011-0464
Autor:
J. Hayek, Monique J. B. M. Veendrick-Meekes, Maria Tassini, Raffaella Zannolli, Maaike de Vries, Appie Bilos, Gianni Valensin, Ron A. Wevers, Eva Morava, Udo F. H. Engelke, Leo A. J. Kluijtmans, Antonio Vivi, Wim Brussel, Sabrina Buoni, Berry Kremer, Gajja S. Salomons
Publikováno v:
Engelke, U F H, Tassini, M, Hayek, J, de Vries, M, Bilos, A, Vivi, A, Valensin, G, Buoni, S, Zannolli, R, Brussel, W, Kremer, B, Salomons, G S, Veendrick-Meekes, M J B M, Kluijtmans, L A J, Morava, E & Wevers, R A 2009, ' Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids ', NMR in Biomedicine, vol. 22, no. 5, pp. 538-544 . https://doi.org/10.1002/nbm.1367
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point towards the diagnosis of GAMT deficiency. These include the low levels of creatine and creatinine in urine, the high concentration of guanidinoacetic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ad2489fa250e140ba7b4aa57fe2193
https://doi.org/10.1002/nbm.1367
https://doi.org/10.1002/nbm.1367
Autor:
Wim Brussel, Hans Zondervan, Frank Brus, Manon J. N. L. Benders, Désiree M. W. G. Moonen-Delarue, Mei-Nga Smit-Wu
Publikováno v:
European Journal of Pediatrics. 165:374-379
Since vacuum-related neonatal morbidity has been described in many studies clinical observation of neonates is common practice after vacuum-assisted vaginal delivery. However, no guidelines are available regarding the required length of hospital stay
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9435a3e26e7f5ece98b512cc2e77c430
https://doi.org/10.1007/s00431-005-0054-3
https://doi.org/10.1007/s00431-005-0054-3
Autor:
Ingrid P.C. Krapels, Régine P.M. Steegers-Theunissen, Iris A.L.M. van Rooij, Gerhard A. Zielhuis, Paul H.M. Spauwen, Ron A. Wevers, Wim Brussel
Publikováno v:
British Journal of Obstetrics and Gynaecology, 111, 661-668. Wiley-Blackwell Publishing Ltd
BJOG : an International Journal of Obstetrics and Gynaecology, 111, 661-8
BJOG : an International Journal of Obstetrics and Gynaecology, 111, 7, pp. 661-8
BJOG : an International Journal of Obstetrics and Gynaecology, 111, 661-8
BJOG : an International Journal of Obstetrics and Gynaecology, 111, 7, pp. 661-8
Contains fulltext : 58709.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate myo-inositol, glucose and zinc status in mothers and their infants on cleft lip with or without cleft palate risk (CLP). DESIGN: Case-control study. SETT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54aa40e15c6c98389e8a822db4e2b3e
https://pure.eur.nl/en/publications/6358d9d2-1beb-4e38-bcc8-e2d1eef4fbf0
https://pure.eur.nl/en/publications/6358d9d2-1beb-4e38-bcc8-e2d1eef4fbf0
Publikováno v:
Pediatrics. 126(6)
growth factor 23 (FGF-23) is a recently identified hormone that is of prime importance for phosphate homeostasis in humans. FGF-23 is secreted by osteocytes in response to phosphate-loading. It stimulates renal phosphate excretion and suppresses the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb7a165e8a47306a702da2be24e0cd6
https://pubmed.ncbi.nlm.nih.gov/21041283
https://pubmed.ncbi.nlm.nih.gov/21041283
Autor:
Gundula Leschik, Susanne Morlot, Claus-Eric Ott, Juergen Kohlhase, Louise Brueton, Fabienne Trotier, Claudia M. Haase, Min Ae Lee-Kirsch, Eva Klopocki, Elisabeth Steichen-Gersdorf, Stefan Mundlos, Andrew H. Lane, Dieter Kotzot, Hartmut Peters, David Tegay, Wim Brussel, Encarna Guillén-Navarro, Han G. Brunner, Marleen Simon
Publikováno v:
Human Mutation, 31, E1587-93
Human Mutation
Human Mutation, Wiley, 2010, 31 (8), ⟨10.1002/humu.21298⟩
Human Mutation, 31, 8, pp. E1587-93
Human Mutation, 31(8), E1587-E1593. Wiley-Liss Inc.
Human Mutation
Human Mutation, Wiley, 2010, 31 (8), ⟨10.1002/humu.21298⟩
Human Mutation, 31, 8, pp. E1587-93
Human Mutation, 31(8), E1587-E1593. Wiley-Liss Inc.
Contains fulltext : 88233.pdf (Publisher’s version ) (Closed access) Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ad619727148544f756782449a6b60b
http://hdl.handle.net/2066/88233
http://hdl.handle.net/2066/88233
Autor:
Raoul C.M. Hennekam, Marian A. J. Weterman, Gudrun Nürnberg, Eleonora Aronica, Francesco Muntoni, Yasmin Namavar, Bwee Tien Poll-The, Frank Baas, Peter G. Barth, Birgit Budde, Mohammad R. Toliat, Ingeborg Krägeloh-Mann, Bernd Wollnik, Mårten Kyllerman, Yanick J. Crow, Wolfgang Höhne, Fred van Ruissen, Knut Brockmann, Thomas Voit, Erik T. Te Beek, Linda S. de Vries, Michèl A.A.P. Willemsen, Peter Nürnberg, Maja Steinlin, Roberta Battini, Kees Fluiter, Lina Basel-Vanagaite, Eugen Boltshauser, Wim Brussel, Eugenio Grillo, Filip Roelens, Gerhard Hammersen, Frits A. Beemer, Christian Becker, Marjo S. van der Knaap, Loes M E Stoets, László Sztriha, Colin D. Ferrie
Publikováno v:
Nature genetics, 40(9), 1113-1118. Nature Publishing Group
Nature Genetics, 40(9), 1113-1118. Nature Publishing Group
Budde, B S, Namavar, Y, Barth, P G, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, M A J, Fluiter, K, Beek, E T T, Aronica, E, van der Knaap, M S, Hohne, W, Toliat, M R, Crow, Y J, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krageloh-Mann, I, de Vries, L S, Sztriha, L, Muntoni, F, Ferrie, C D, Battini, R, Hennekam, R C M, Grillo, E, Beemer, F A, Stoets, L M E, Wollnik, B, Nurnberg, P & Baas, F 2008, ' tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia ', Nature Genetics, vol. 40, no. 9, pp. 1113-1118 . https://doi.org/10.1038/ng.204
Nature Genetics, 40, 1113-8
Nature Genetics, 40, 9, pp. 1113-8
Nature Genetics, 40(9), 1113-1118. Nature Publishing Group
Budde, B S, Namavar, Y, Barth, P G, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, M A J, Fluiter, K, Beek, E T T, Aronica, E, van der Knaap, M S, Hohne, W, Toliat, M R, Crow, Y J, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krageloh-Mann, I, de Vries, L S, Sztriha, L, Muntoni, F, Ferrie, C D, Battini, R, Hennekam, R C M, Grillo, E, Beemer, F A, Stoets, L M E, Wollnik, B, Nurnberg, P & Baas, F 2008, ' tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia ', Nature Genetics, vol. 40, no. 9, pp. 1113-1118 . https://doi.org/10.1038/ng.204
Nature Genetics, 40, 1113-8
Nature Genetics, 40, 9, pp. 1113-8
Contains fulltext : 69211.pdf (Publisher’s version ) (Closed access) Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a425a2c2a82fb0e3458021b8b1adaf9