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1. Full Text Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
by Pant, Devesh C and Dorboz, Imen and Schluter, Agatha and Fourcade, Stéphane and Launay, Nathalie and Joya, Javier and Aguilera-Albesa, Sergio and Yoldi, Maria Eugenia and Casasnovas, Carlos and Willis, Mary J and Ruiz, Montserrat and Ville, Dorothée and Lesca, Gaetan and Siquier-Pernet, Karine and Desguerre, Isabelle and Yan, Huifang and Wang, Jingmin and Burmeister, Margit and Brady, Lauren and Tarnopolsky, Mark and Cornet, Carles and Rubbini, Davide and Terriente, Javier and James, Kiely N and Musaev, Damir and Zaki, Maha S and Patterson, Marc C and Lanpher, Brendan C and Klee, Eric W and E Vairo, Filippo Pinto and Wohler, Elizabeth and Sobreira, Nara Lygia de M and Cohen, Julie S and Maroofian, Reza and Galehdari, Hamid and Mazaheri, Neda and Shariati, Gholamreza and Colleaux, Laurence and Rodriguez, Diana and Gleeson, Joseph G and Pujades, Cristina and Fatemi, Ali and Boespflug-Tanguy, Odile and Pujol, Aurora
Journal of Clinical Investigation, ISSN 0021-9738, 03/2019, Volume 129, Issue 3, pp. 1240 - 1256
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients... 
DIHYDROCERAMIDE DESATURASE | HYDROXYLASE | MEDICINE, RESEARCH & EXPERIMENTAL | INHIBITION | MYELINATION | CERAMIDE SYNTHESIS | DISEASE | ACCUMULATION | MUTATIONS | IDENTIFICATION | INSIGHTS | Usage | Care and treatment | Multiple sclerosis | Genetic disorders | Magnetic resonance imaging | Exome sequencing | Sphingolipids | Research | Risk factors | Cerebellum | Disease | Lipids | Biosynthesis | Desaturase | Autophagy | Atrophy | Oligodendrocytes | Cell cycle | Ceramide | Fibroblasts | Thalamus | Enzymes | Myelin | Leukodystrophy | Spasticity | Metabolism | Patients | Corpus callosum | Neurological diseases | Insects | FTY720 | Nystagmus | Dystonia | Endoplasmic reticulum | Life Sciences | Genetics | Human genetics
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2. Full Text Relationship between method of anastomosis and anastomotic failure after right hemicolectomy and ileo-caecal resection: an international snapshot audit
by Pinkney, T and Battersby, N and Bhangu, A and Chaudhri, S and El-Hussuna, A and Frasson, M and Nepogodiev, D and Singh, B and Vennix, S and Zmora, O and Altomare, D and Bemelman, W and Christensen, P and D'Hoore, A and Laurberg, S and Morton, D and Rubbini, M and Vaizey, C and Magill, L and Perry, R and Sheward, N and Ives, N and Mehta, S and Cillo, M and Estefania, D and Patron Uriburu, J and Ruiz, H and Salomon, M and Makhmudov, A and Selnyahina, L and Varabei, A and Vizhynis, Y and Claeys, D and Defoort, B and Muysoms, F and Pletinckx, P and Vergucht, V and Debergh, I and Feryn, T and Reusens, H and Nachtergaele, M and Francart, D and Jehaes, C and Markiewicz, S and Monami, B and Weerts, J and Bouckaert, W and Houben, B and Knol, J and Sergeant, G and Vangertruyden, G and Haeck, L and Lange, C and Sommeling, C and Vindevoghel, K and Castro, S and de Bruyn, H and Huyghe, M and de Wolf, E and Reynders, D and van Overstraeten, A. de Buck and Wolthuis, A and Delibegovic, S and Christiani, A and Marchiori, M and Rocha de Moraes, C and Tercioti, V and Arabadjieva, E and Bulanov, D and Dardanov, D and Stoyanov, V and Yonkov, A and Angelov, K and Maslyankov, S and Sokolov, M and Todorov, G and Toshev, S and Georgiev, Y and Karashmalakov, A and Zafirov, G and Wang, X and Condic, D and Kraljik, D and Mrkovic, H and Pavkovic, V and Raguz, K and Bencurik, V and Holaskova, E and Skrovina, M and Farkasova, M and Grolich, T and Kala, Z and Antos, F and Pruchova, V and Sotona, O and Chobola, M and Dusek, T and Ferko, A and Orhalmi, J and Hoch, J and ... and Local Investigators and European Soc Coloproctology Collab and ESCP Res Comm and Writing Grp ESCP Cohort Studies and Audits Sub-Comm and Logistical Support Data Collation and 2015 European Society of Coloproctology collaborating group and The 2015 European Society of Coloproctology collaborating group and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för kirurgiska vetenskaper and Gastrointestinalkirurgi
Colorectal disease, ISSN 1462-8910, 2017, Volume 19, Issue 8, pp. O296 - O311
Aim The anastomosis technique used following right-sided colonic resection is widely variable and may affect patient outcome. This study aimed to assess the... 
epidemiology | Crohn's disease | colorectal cancer | international | Anastomotic leak | LEAK | DEFINITION | MORTALITY | SURGERY | RISK-FACTORS | COMPLICATIONS | GASTROENTEROLOGY & HEPATOLOGY | Emergency procedures | Adjustment | Surgery | Anastomosis | Malignancy | Regression analysis | Patients | Cofactors | Medical and Health Sciences | Medicin och hälsovetenskap
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3. Full Text Association of mechanical bowel preparation with oral antibiotics and anastomotic leak following left sided colorectal resection: an international, multi‐centre, prospective audit
by Glasbey, James C and Blanco‐Colino, Ruth and Kelly, Michael and Singh, Baljit and Bhangu, Aneel and Pinkney, Thomas and Poskus, Tomas and El‐Hussuna, Alaa and Battersby, Nick J and Buchs, Nicolas C and Buskens, Christianne and Chaudri, Sanjay and Frasson, Matteo and Gallo, Gaetano and Minaya‐Bravo, Ana María and Morton, Dion and Negoi, Ionut and Nepogodiev, Dmitri and Pata, Francesco and Sánchez‐Guillén, Luis and Zmora, Oded and Perry, Rita and Magill, Laura and Altomare, Donato and Bemelman, Willem and Brown, Steven and Denost, Quentin and Knowles, Charles and Laurberg, Søren and Lefevre, Jérémie H and Möeslein, Gabriela and Pinkney, Tom and Vaizey, Carolynne and Bilali, S and Bilali, V and Salomon, M and Cillo, M and Estefania, D and Patron Uriburu, J and Ruiz, H and Farina, P and Carballo, F and Guckenheimer, S and Proud, D and Brouwer, R and Bui, A and Nguyen, B and Smart, P and Warwick, A and Theodore, J. E and Herbst, F and Birsan, T and Dauser, B and Ghaffari, S and Hartig, N and Stift, A and Argeny, S and Unger, L and Strouhal, R and Heuberger, A and Varabei, A and Lahodzich, N and Makhmudov, A and Selniahina, L and Feryn, T and Leupe, T and Maes, L and Reynvoet, E and Van Langenhove, K and Nachtergaele, M and Monami, B and Francart, D and Jehaes, C and Markiewicz, S and Weerts, J and Van Belle, K and Bomans, B and Cavenaile, V and Nijs, Y and Vertruyen, M and Pletinckx, P and Claeys, D and Defoort, B and Muysoms, F and Van Cleven, S and Lange, C and Vindevoghel, K and Wolthuis, A and D'Hoore, A and Todorovic, M and Dabic, S and Kenjic, B and Lovric, S and Vidovic, J and Delibegovic, S and Mehmedovic, Z and Christiano, A and Lombardi, B and Marchiori, M and Tercioti, V and ... and 2017 European Soc Coloproctology E and 2017 European Society of Coloproctology (ESCP) collaborating group and The 2017 European Society of Coloproctology (ESCP) collaborating group
Colorectal Disease, ISSN 1462-8910, 09/2018, Volume 20, Issue S6, pp. 15 - 32
Introduction The optimal bowel preparation strategy to minimise the risk of anastomotic leak is yet to be determined. This study aimed to determine whether... 
bowel preparation | colonic cancer | Colorectal surgery | laparoscopic surgery | anastomotic leak | SURGERY | METAANALYSIS | ILEUS | RANDOMIZED-TRIAL | COLECTOMY | PROPHYLAXIS | COLON SURGERY | SURGICAL SITE INFECTION | COMPLICATIONS | OUTCOMES | GASTROINTESTINAL SURGERY | GASTROENTEROLOGY & HEPATOLOGY | Regression models | Antibiotics | Intestine | Anastomosis | Rectum | Risk reduction | Risk | Regression analysis | Patients
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4. Full Text Risk factors for unfavourable postoperative outcome in patients with Crohn's disease undergoing right hemicolectomy or ileocaecal resection. An international audit by ESCP and S-ECCO
by el-Hussuna, A and Pinkney, T and Zmora, O and Frasson, M and Bhangu, A and Battersby, N and Chaudhri, S and Nepogodiev, D and Singh, B and Vennix, S and Altomare, D and Bemelman, W and Christensen, P and D'Hoore, A and Laurberg, S and Morton, D and Rubbini, M and Vaizey, C and Magill, L and Perry, R and Sheward, N and Nørmark Mortensen, Rikke and el-Hussuna, Alaa and Cillo, M and Estefania, D and Patron Uriburu, J and Ruiz, H and Salomon, M and Makhmudov, A and Selnyahina, L and Varabei, A and Vizhynis, Y and Claeys, D and Defoort, B and Muysoms, F and Pletinckx, P and Vergucht, V and Debergh, I and Feryn, T and Reusens, H and Nachtergaele, M and Francart, D and Buskens, C and de Groof, E. J and Tanis, P and van Duijvendijk, P and 2015 European Soc Coloproctology and 2015 European Society of Coloproctology collaborating group
Colorectal disease, ISSN 1462-8910, 2018, Volume 20, Issue 3, pp. 219 - 227
Aim: Patient- and disease-related factors, as well as operation technique, all have the potential to impact on postoperative outcome in Crohn's disease. The... 
postoperative complications | Crohn's disease | parenteral nutrition | resection | outcome | surgery | ANASTOMOTIC COMPLICATIONS | GASTROENTEROLOGY & HEPATOLOGY | ABDOMINAL-SURGERY | INTRAABDOMINAL SEPTIC COMPLICATIONS | Medicine, Experimental | Medical research | Surgery | Postoperative period | Statistical analysis | Nutrition | Complications | Parenteral nutrition | Regression analysis | Risk analysis | Patients | Optimization | Risk factors | Crohns disease | Confidence intervals
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