Results 21 to 30 of about 3,147 (209)

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan [PDF]

, 2012
Contains fulltext : 108772.pdf (Publisher’s version ) (Open Access)Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD)
van Reeuwijk, Jeroen, Peeters, Els A.J., Roscioli, T., Sheridan, Eamonn, Kayserili, H., Devriendt, K, Willemsen, Michel A., Gita M B Tan-Sindhunata, Kamsteeg, E, Willemsen, M.A.A.P., Chitayat, David, Eamonn Sheridan, Stemple, D.L., Delrée, P, Buckley, Michael F., Bokhoven, J.H.L.M. van, Mancini, Grazia M. S., Peeters, E.A.J., Devriendt, Koenraad, Lefeber, DJ, Bennett, C, Pfundt, R., Lefeber, D.J., Danijela Petković Ramadža, El-Hashash, OA, Tony Roscioli, van Beusekom, E, Lin, YY, Joris A Veltman, Tan-Sindhunata, Gita M.B., Brunner, HG, Die-Smulders, C.E. de, Mancini, GMS, Peeters, Els A. J., Mancini, Grazia M.S., de Die-Smulders, CE, Gilissen, Christian, Michèl A Willemsen, Buysse, K, Kayserili, H, Gilissen, C.F.H.A., Lin, Yung-Yao, Pfundt, R, Kamsteeg, E-J, Gilissen, C (Christian), van den Elzen, C., Ramadza, Danijela Petkovic, Maystadt, I, Riemersma, M, Vissers, LELM, van Bokhoven, H., Altunoglu, U., Lin, Y.Y., Vissers, Lisenka E.LM., Lin, Y-Y, Stemple, Derek L., Riemersma, Moniek, Koenraad Devriendt, Buckley, M.F., Paul Delrée, Kamsteeg, Erik-Jan, Grisart, B, Riemersma, M., Pfundt, Rolph, Grazia M S Mancini, Gilissen, C., van den Elzen, C, Han G Brunner, Christine E de Die-Smulders, Dirk J Lefeber, Ellen van Beusekom, Verheijen - Mancini, Grazia, Maystadt, I., Lisenka E L M Vissers, Bennett, C., van Bokhoven, Hans, Sheridan, E, El-Hashash, Osama Abd El-Fattah, Vissers, L.E.L.M., Altunoglu, Umut, Roscioli, Tony, Kayserili, Hulya, Roscioli, T ; https://orcid.org/, Jeroen van Reeuwijk, Christopher Bennett, Ramadza, D.P., Sheridan, E., Erik-Jan Kamsteeg, Huiqing Zhou, Chitayat, D., Zhou, HQ, Grisart, Bernard, Elzen, C. van den, David Chitayat, Chitayat, D, Peeters, E.A., Osama Abd El-Fattah El-Hashash, Hans van Bokhoven, Reeuwijk, J. van, Beusekom, E. van, Altunoglu, U, Zhou, H, Delree, P., Brunner, Han G., Bernard Grisart, Christian Gilissen, de Die-Smulders, Christine E., Brunner, H.G., Kamsteeg, EJ, Kamsteeg, E.J., El-Hashash, OAE-F, Peart-Vissers, L.E.L.M., Hülya Kayserili, van Reeuwijk, J., Willemsen, MA, Stemple, DL, Buysse, Karen, Vissers, Lisenka E. L. M., Zhou, H., El-Hashash, O.A., Umut Altunoglu, Roscioli, T, Michael F Buckley, van Bokhoven, H, Karen Buysse, Ramadža, DP, Bennett, Christopher, Tan-Sindhunata, G.M., Tan-Sindhunata, GMB, Zhou, Huiqing, van Reeuwijk, J, Peeters, EAJ, Lefeber, Dirk J., Buckley, Michael, Rolph Pfundt, Derek L Stemple, de Die-Smulders, C.E., Mancini, G.M.S., Moniek Riemersma, Bokhoven, H. van, Margit Schraders, Els A J Peeters, Tan-Sindhunata, Gita M. B., Maystadt, Isabelle, Tan-Sindhunata, M.B., Buckley, MF, van den Elzen, Christa, Isabelle Maystadt, Veltman, Joris A., Buysse, K., Devriendt, K., Veltman, JA, Delree, Paul, Schraders, M., van Beusekom, E., Yung-Yao Lin, Christa van den Elzen, Veltman, J.A., Gilissen, C, van Beusekom, Ellen, Schraders, Margit, Grisart, B., Willemsen, M.A., Zhou, H.Q., Schraders, M, VISSERS, LE, van, Reeuwijk, PEETERS, EA, de, Die-Smulders, TAN-SINDHUNATA, GM, MANCINI, GM, van, Beusekom, van, Bokhoven, van, den   +173 more
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Incertidumbre durante la atención enfermera en el cuidado del orificio de salida sano del catéter peritoneal

Enfermería Nefrológica, 2021
Estimado editor jefe de la revista Enfermería Nefrológica, Desde mi responsabilidad como vocal de diálisis peritoneal de la Sociedad Española de Enfermería Nefrológica (SEDEN), me gustaría aportar unas reflexiones acerca de la cura del orificio de ...
Miguel Núñez-Moral
doaj   +1 more source

Overview of ISPD 2022 guideline recommendations for peritonitis prevention and treatment.

Bulletin de la Dialyse à Domicile, 2022
This article is a summary of the new ISPD recommendations for peritonitis prevention and treatment. The latter recommendations bring definition clarifications, and new targets with respect to the rates of peritonitis.
Maxime Taghavi, Max Dratwa
doaj   +1 more source

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases [PDF]

, 2015
Background: Limb Girdle Muscular Dystrophy (LGMD), caused by defective aα-dystroglycan (aα-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes.
D. Ronchi, M. Scarlato, M. Moggio, F. Magri, I. Colombo, N. Bresolin, G.P. Comi, M.G. D'Angelo, S. Corti, S. Previtali, P. Ciscato, R. Del Bo, R. Brusa   +12 more
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Red man syndrome following intraperitoneal vancomycin in a child with peritonitis

Frontiers in Pediatrics, 2014
Red Man Syndrome has frequently been reported to occur with intravenous vancomycin therapy. However, there have been few reports of this complication during intraperitoneal treatment with vancomycin.
Melissa eDomis, Michael L Moritz
doaj   +1 more source

Five Things to Know About Incremental Peritoneal Dialysis

Canadian Journal of Kidney Health and Disease, 2023
Incremental peritoneal dialysis (PD) offers patients newly starting dialysis less than the standard “full dose” of PD, reducing treatment burden and intrusiveness while minimizing symptoms of renal failure.
Mohammed Azfar Qureshi, Shabnam Hamidi, Bourne L. Auguste   +2 more
doaj   +1 more source

gapdh mutations do not confer resistance to the IspD inhibitor MMV008138.

, 2022
MMV008138 inhibits the MEP pathway enzyme IspD competitively with its CTP substrate. Summary EC50 data, determined using GraphPad Prism non-linear regression. (TIFF)
Naomi Ghebremichael (9578319), Gavin Nicholas John (13794466), Lisa K. McLellan (10053043), Audrey Ragan Odom John (13794469), Dana M. Hodge (13794463), Andrew J. Jezewski (8934521), Ann M. Guggisberg (13794460)   +6 more
core   +1 more source

Traduction des Recommandations de l'ISPD pour l'évaluation du dysfonctionnement de la membrane péritonéale chez l'adulte

Bulletin de la Dialyse à Domicile, 2021
Informations concernant cette traduction Dans le cadre d’un accord de partenariat entre l’ISPD et le RDPLF, le RDPLF est le traducteur français officiel des recommandations de l’ISPD.
Christian Verger, Max Dratwa
doaj   +1 more source

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy

Cell Reports, 2016
Glycosylation is an essential post-translational modification that underlies many biological processes and diseases. α-dystroglycan (α-DG) is a receptor for matrix and synaptic proteins that causes muscular dystrophy and lissencephaly upon its abnormal ...
Motoi Kanagawa, Kazuhiro Kobayashi, Michiko Tajiri, Hiroshi Manya, Atsushi Kuga, Yoshiki Yamaguchi, Keiko Akasaka-Manya, Jun-ichi Furukawa, Mamoru Mizuno, Hiroko Kawakami, Yasuro Shinohara, Yoshinao Wada, Tamao Endo, Tatsushi Toda   +13 more
doaj   +1 more source

Traduction Française de la prise de position de la Société Internationale pour la Dialyse Péritonéale (ISPD) : déclaration des arrêts de traitement par dialyse péritonéale .

Bulletin de la Dialyse à Domicile
Dans le cadre d’un accord de partenariat entre l’ISPD et le RDPLF ( https://doi.org/10.25796/bdd.v4i3.63033 ), le RDPLF est le traducteur français officiel des recommandations de l’ISPD.
Annabel Boyer, Max Dratwa, Christian Verger   +2 more
doaj   +1 more source