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by Horikoshi, Momoko and Yaghootkar, Hanieh and Mook-Kanamori, Dennis O and Sovio, Ulla and Taal, H. Rob and Hennig, Branwen J and Bradfield, Jonathan P and St Pourcain, Beate and Evans, David M and Charoen, Pimphen and Kaakinen, Marika and Cousminer, Diana L and Lehtimaki, Terho and Kreiner-Moller, Eskil and Warrington, Nicole M and Bustamante, Mariona and Feenstra, Bjarke and Berry, Diane J and Thiering, Elisabeth and Pfab, Thiemo and Barton, Sheila J and Shields, Beverley M and Kerkhof, Marjan and van Leeuwen, Elisa and Fulford, Anthony J and Kutalik, Zoltan and Zhao, Jing Hua and den Hoed, Marcel and Mahajan, Anubha and Lindi, Virpi and Goh, Liang-Kee and Hottenga, Jouke-Jan and Wu, Ying and Raitakari, Olli T and Harder, Marie N and Meirhaeghe, Aline and Ntalla, Ioanna and Salem, Rany M and Jameson, Karen A and Zhou, Kaixin and Monies, Dorota M and Lagou, Vasiliki and Kirin, Mirna and Heikkinen, Jani and Adair, Linda S and Alkuraya, Fowzan S and Al-Odaib, Ali and Amouyel, Philippe and Andersson, Ehm Astrid and Bennett, Amanda J and Blakemore, Alexana I. F and Buxton, Jessica L and Dallongeville, Jean and Das, Shikta and de Geus, Eco J. C and Estivill, Xavier and Flexeder, Claudia and Froguel, Philippe and Geller, Frank and Godfrey, Keith M and Gottrand, Frederic and Groves, Christopher J and Hansen, Torben and Hirschhorn, Joel N and Hofman, Albert and Hollegaard, Mads V and Hougaard, David M and Hyppoenen, Elina and Inskip, Hazel M and Isaacs, Aaron and Jorgensen, Torben and Kanaka-Gantenbein, Christina and Kemp, John P and Kiess, Wieland and Kilpelainen, Tuomas O and Klopp, Norman and Knight, Bridget A and Kuzawa, Christopher W and McMahon, George and Newnham, John P and Niinikoski, Harri and Oostra, Ben A and Pedersen, Louise and Postma, Dirkje S and Ring, Susan M and Rivadeneira, Fernando and Robertson, Neil R and Sebert, Sylvain and Simell, Olli and Slowinski, Torsten and Tiesler, Carla M. T and Toenjes, Anke and Vaag, Allan and Viikari, Jorma S and Vink, Jacqueline M and Vissing, Nadja Hawwa and Wareham, Nicholas J and Willemsen, Gonneke and Witte, Daniel R and Zhang, Haitao and ... and Early Growth Genetics EGG and MAGIC and Early Growth Genetics (EGG) Consortium and Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC) and The Meta-Analyses of Glucose- and Insulin-related traits Consortium (MAGIC)
Nature Genetics, ISSN 1061-4036, 01/2013, Volume 45, Issue 1, pp. 76 - 82
Journal Article
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 03/2019, Volume 29, Issue 3, pp. 123 - 126
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation with an incidence in the UK of more than... 
emergency regimen | medium-chain acyl-CoA dehydrogenase deficiency | hypoglycaemia | MCADD | fatty acid oxidation disorder | Medium chain acyl-CoA dehydrogenase deficiency | Care and treatment | Genetic aspects | Diagnosis
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 01/2011, Volume 96, Issue 1, pp. 106 - 108
Journal Article
Cochrane Database of Systematic Reviews, ISSN 1469-493X, 06/2019, Volume 2019, Issue 6, pp. CD009354 - CD009354
Journal Article
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1060 - 1073
ObjectivePatients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with... 
IBD-GENETICS | IBD CLINICAL | IMMUNODEFICIENCY | IBD BASIC RESEARCH | Crohn'S DISEASE | MIGLUSTAT THERAPY | PATHOGENESIS | APOPTOSIS | DENDRITIC CELLS | MACROPHAGES | SUSCEPTIBILITY | ILEAL MUCOSA | PHAGOSOME PROTEOME | GASTROENTEROLOGY & HEPATOLOGY | BOWEL-DISEASE | INNATE IMMUNITY | Tumor Necrosis Factor-alpha - metabolism | Crohn Disease - genetics | X-Linked Inhibitor of Apoptosis Protein - deficiency | Humans | Child, Preschool | Lysosomes | Male | Nod2 Signaling Adaptor Protein - genetics | Leukocytes, Mononuclear | Pyridazines - pharmacology | Niemann-Pick Disease, Type C - physiopathology | Autophagy - drug effects | Crohn Disease - complications | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Young Adult | Gentamicins - pharmacology | Adult | Bacteria | Female | Genetic Diseases, X-Linked - genetics | Autophagy - genetics | Child | Receptor-Interacting Protein Serine-Threonine Kinase 2 - antagonists & inhibitors | Macrophages - physiology | Granuloma - genetics | Cells, Cultured | Chlorpromazine - pharmacology | Imidazoles - pharmacology | Acetylmuramyl-Alanyl-Isoglutamine - metabolism | X-Linked Inhibitor of Apoptosis Protein - genetics | Acetylmuramyl-Alanyl-Isoglutamine - pharmacology | Granuloma - pathology | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Dopamine Antagonists - pharmacology | Adolescent | X-Linked Inhibitor of Apoptosis Protein - metabolism | Macrophages - drug effects | Anti-Bacterial Agents - pharmacology | Protein Kinase Inhibitors - pharmacology | Mutation | Niemann-Pick Disease, Type C - complications | Niemann-Pick Disease, Type C - genetics | Autophagy (Cytology) | Inflammatory bowel diseases | Gastrointestinal diseases | Causes of | Colorectal diseases | Crohn's disease | Research | Niemann-Pick disease | Salmonella | Granuloma | Muramyl dipeptide | Liver | XIAP protein | Kinases | Macrophages | Autophagy | Defects | Genotype & phenotype | Cell activation | Intestine | Neurodegeneration | Npc1 protein | Age | NOD2 protein | Oligomerization | Dendritic cells | Cytokines | Blood & organ donations | Inflammation | Patients | Crohns disease | Studies | Inflammatory bowel disease | Monocytes | Proteomics | Colitis | Adapter proteins | Phagocytosis | Apoptosis | Index Medicus | Abridged Index Medicus | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
Journal Article
by Strawbridge, Rona J and Dupuis, Josée and Prokopenko, Inga and Barker, Adam and Ahlqvist, Emma and Rybin, Denis and Petrie, John R and Travers, Mary E and Bouatia-Naji, Nabila and Dimas, Antigone S and Nica, Alexana and Wheeler, Eleanor and Chen, Han and Voight, Benjamin F and Taneera, Jalal and Kanoni, Stavroula and Peden, John F and Turrini, Fabiola and Gustafsson, Stefan and Zabena, Carina and Almgren, Peter and Barker, David J. P and Barnes, Daniel and Dennison, Elaine M and Eriksson, Johan G and Eriksson, Per and Eury, Elodie and Folkersen, Lasse and Fox, Caroline S and Frayling, Timothy M and Goel, Anuj and Gu, Harvest F and Horikoshi, Momoko and Isomaa, Bo and Jackson, Anne U and Jameson, Karen A and Kajantie, Eero and Kerr-Conte, Julie and Kuulasmaa, Teemu and Kuusisto, Johanna and Loos, Ruth J. F and Luan, Jian'an and Makrilakis, Konstantinos and Manning, Alisa K and Martínez-Larrad, María Teresa and Narisu, Narisu and Nastase Mannila, Maria and Ohrvik, John and Osmond, Clive and Pascoe, Laura and Payne, Felicity and Sayer, Avan A and Sennblad, Bengt and Silveira, Angela and Stancáková, Alena and Stirrups, Kathy and Swift, Amy J and Syvänen, Ann-Christine and Tuomi, Tiinamaija and van 't Hooft, Ferdinand M and Walker, Mark and Weedon, Michael N and Xie, Weijia and Zethelius, Björn and Ongen, Halit and Mälarstig, Anders and Hopewell, Jemma C and Saleheen, Danish and Chambers, John and Parish, Sarah and Danesh, John and Kooner, Jaspal and Ostenson, Claes-Göran and Lind, Lars and Cooper, Cyrus C and Serrano-Ríos, Manuel and Ferrannini, Ele and Forsen, Tom J and Clarke, Robert and Franzosi, Maria Grazia and Seedorf, Udo and Watkins, Hugh and Froguel, Philippe and Johnson, Paul and Deloukas, Panos and Collins, Francis S and Laakso, Markku and Dermitzakis, Emmanouil T and Boehnke, Michael and McCarthy, Mark I and Wareham, Nicholas J and Groop, Leif and Pattou, François and Gloyn, Anna L and Dedoussis, George V and Lyssenko, Valeriya and Meigs, James B and Barroso, Inês and Watanabe, Richard M and Ingelsson, Erik and ... and C4D Consortium and DIAGRAM Consortium and GIANT Consortium and CARDIoGRAM Consortium and MuTHER Consortium and the MuTHER Consortium and the CARDIoGRAM Consortium and the C4D Consortium and the DIAGRAM Consortium and the GIANT Consortium and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Molekylär medicin and Geriatrik and Uppsala universitet and Institutionen för medicinska vetenskaper and Institutionen för folkhälso- och vårdvetenskap
Diabetes, ISSN 0012-1797, 2011, Volume 60, Issue 10, pp. 2624 - 2634
Journal Article
by Vimaleswaran, Karani S, PhD and Cavadino, Alana, MSc and Berry, Diane J, PhD and Jorde, Rolf, Prof and Dieffenbach, Aida Karina, PhD and Lu, Chen, PhD and Alves, Alexessander Couto, PhD and Heerspink, Hiddo J Lambers, PhD and Tikkanen, Emmi, PhD and Eriksson, Joel, MD and Wong, Andrew, PhD and Mangino, Massimo, PhD and Jablonski, Kathleen A, PhD and Nolte, Ilja M, PhD and Houston, Denise K, PhD and Ahluwalia, Tarunveer Singh, PhD and van der Most, Peter J, MSc and Pasko, Dorota, MSc and Zgaga, Lina, PhD and Thiering, Elisabeth, MSc and Vitart, Veronique, PhD and Fraser, Ross M, PhD and Huffman, Jennifer E, MSc and de Boer, Rudolf A, Prof and Schöttker, Ben, PhD and Saum, Kai-Uwe, MPH and McCarthy, Mark I, Prof and Dupuis, Josée, Prof and Herzig, Karl-Heinz, Prof and Sebert, Sylvain, PhD and Pouta, Anneli, MD and Laitinen, Jaana, PhD and Kleber, Marcus E, PhD and Navis, Gerjan, Prof and Lorentzon, Mattias, Prof and Jameson, Karen, MSc and Arden, Nigel, Prof and Cooper, Jackie A, MSc and Acharya, Jayshree, PhD and Hardy, Rebecca, Prof and Raitakari, Olli, Prof and Ripatti, Samuli, Prof and Billings, Liana K, MD and Lahti, Jari, PhD and Osmond, Clive, Prof and Penninx, Brenda W, Prof and Rejnmark, Lars, MD and Lohman, Kurt K, MStat and Paternoster, Lavinia, PhD and Stolk, Ronald P, Prof and Hernandez, Dena G, MS and Byberg, Liisa, PhD and Hagström, Emil, MD and Melhus, Håkan, Prof and Ingelsson, Erik, Prof and Mellström, Dan, Prof and Ljunggren, Östen, Prof and Tzoulaki, Ioanna, PhD and McLachlan, Stela, MD and Theodoratou, Evropi, PhD and Tiesler, Carla M T, MSc and Jula, Antti, MD and Navarro, Pau, PhD and Wright, Alan F, Prof and Polasek, Ozren, MD and Wilson, James F, DPhil and Rudan, Igor, Prof and Salomaa, Veikko, Prof and Heinrich, Joachim, PhD and Campbell, Harry, Prof and Price, Jacqueline F, MD and Karlsson, Magnus, Prof and Lind, Lars, MD and Michaëlsson, Karl, Prof and Bandinelli, Stefania and Frayling, Timothy M, Prof and Hartman, Catharina A, PhD and Sørensen, Thorkild I A, Prof and Kritchevsky, Stephen B, Prof and Langdahl, Bente Lomholt, Prof and Eriksson, Johan G, Prof and Florez, Jose C, Prof and Spector, Tim D, Prof and Lehtimäki, Terho, Prof and Kuh, Diana, Prof and Humphries, Steve E, Prof and Cooper, Cyrus, Prof and Ohlsson, Claes, Prof and März, Winfried, Prof and de Borst, Martin H, MD and Kumari, Meena, Prof and Kivimaki, Mika, Prof and Wang, Thomas J, Prof and Power, Chris, Prof and Brenner, Hermann, Prof and Grimnes, Guri, MD and van der Harst, Pim, MD and Snieder, Harold, Prof and Hingorani, Aroon D, Prof and Pilz, Stefan, Prof and ... and ICBP and LifeLines Cohort Study Investigato and CHARGE Consortium and Global Blood Pressure Genetics Gl and Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and International Consortium for Blood Pressure (ICBP) and Global Blood Pressure Genetics (Global BPGen) consortium and LifeLines Cohort Study investigators and Caroline Hayward and Medicinska fakulteten and Science for Life Laboratory, SciLifeLab and Medicinska och farmaceutiska vetenskapsområdet and Kardiologi and Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm and Ortopedi and Uppsala universitet and Uppsala kliniska forskningscentrum (UCR) and Kardiovaskulär epidemiologi and Institutionen för medicinska vetenskaper and Molekylär epidemiologi and Institutionen för kirurgiska vetenskaper and Endokrinologi och mineralmetabolism and Klinisk farmakogenomik och osteoporos
Lancet Diabetes & Endocrinology, The, ISSN 2213-8587, 2014, Volume 2, Issue 9, pp. 719 - 729
Journal Article