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by Teslovich, Tanya M and Musunuru, Kiran and Smith, Albert V and Edmondson, Anew C and Stylianou, Ioannis M and Koseki, Masahiro and Pirruccello, James P and Ripatti, Samuli and Chasman, Daniel I and Willer, Cristen J and Johansen, Christopher T and Fouchier, Sigrid W and Isaacs, Aaron and Peloso, Gina M and Barbalic, Maja and Ricketts, Sally L and Bis, Joshua C and Aulchenko, Yurii S and Thorleifsson, Gudmar and Feitosa, Mary F and Chambers, John and Orho-Melander, Marju and Melander, Olle and Johnson, Toby and Li, Xiaohui and Guo, Xiuqing and Li, Mingyao and Shin Cho, Yoon and Jin Go, Min and Jin Kim, Young and Lee, Jong-Young and Park, Taesung and Kim, Kyunga and Sim, Xueling and Twee-Hee Ong, Rick and Croteau-Chonka, Damien C and Lange, Leslie A and Smith, Joshua D and Song, Kijoung and Hua Zhao, Jing and Yuan, Xin and Luan, Jian'an and Lamina, Claudia and Ziegler, Aneas and Zhang, Weihua and Zee, Robert Y. L and Wright, Alan F and Witteman, Jacqueline C. M and Wilson, James F and Willemsen, Gonneke and Wichmann, H.-Erich and Whitfield, John B and Waterworth, Dawn M and Wareham, Nicholas J and Waeber, Gérard and Vollenweider, Peter and Voight, Benjamin F and Vitart, Veronique and Uitterlinden, Ane G and Uda, Manuela and Tuomilehto, Jaakko and Thompson, John R and Tanaka, Toshiko and Surakka, Ida and Stringham, Heather M and Spector, Tim D and Soranzo, Nicole and Smit, Johannes H and Sinisalo, Juha and Silander, Kaisa and Sijbrands, Eric J. G and Scuteri, Angelo and Scott, James and Schlessinger, David and Sanna, Serena and Salomaa, Veikko and Saharinen, Juha and Sabatti, Chiara and Ruokonen, Aimo and Rudan, Igor and Rose, Lynda M and Roberts, Robert and Rieder, Mark and Psaty, Bruce M and Pramstaller, Peter P and Pichler, Irene and Perola, Markus and Penninx, Brenda W. J. H and Pedersen, Nancy L and Pattaro, Cristian and Parker, Alex N and Pare, Guillaume and Oostra, Ben A and O'Donnell, Christopher J and Nieminen, Markku S and Nickerson, Deborah A and Montgomery, Grant W and Meitinger, Thomas and McPherson, Ruth and McCarthy, Mark I and ... and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för genetik och patologi and Uppsala universitet
Nature, ISSN 0028-0836, 2010, Volume 466, Issue 7307, pp. 707 - 713
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2012, Volume 122, Issue 8, pp. 2807 - 2816
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2008, Volume 3, Issue 10, pp. e3583 - e3583
Journal Article
by Dastani, Zari and Hivert, Marie-France and Timpson, Nicholas and Perry, John R. B and Yuan, Xin and Scott, Robert A and Henneman, Peter and Heid, Iris M and Kizer, Jorge R and Lyytikäinen, Leo-Pekka and Fuchsberger, Christian and Tanaka, Toshiko and Morris, Anew P and Small, Kerrin and Isaacs, Aaron and Beekman, Marian and Coassin, Stefan and Lohman, Kurt and Qi, Lu and Kanoni, Stavroula and Pankow, James S and Uh, Hae-Won and Wu, Ying and Bidulescu, Aurelian and Rasmussen-Torvik, Laura J and Greenwood, Celia M. T and Ladouceur, Martin and Grimsby, Jonna and Manning, Alisa K and Liu, Ching-Ti and Kooner, Jaspal and Mooser, Vincent E and Vollenweider, Peter and Kapur, Karen A and Chambers, John and Wareham, Nicholas J and Langenberg, Claudia and Frants, Rune and Willems-Vandijk, Ko and Oostra, Ben A and Willems, Sara M and Lamina, Claudia and Winkler, Thomas W and Psaty, Bruce M and Tracy, Russell P and Brody, Jennifer and Chen, Ida and Viikari, Jorma and Kähönen, Mika and Pramstaller, Peter P and Evans, David M and St Pourcain, Beate and Sattar, Naveed and Wood, Anew R and Bandinelli, Stefania and Carlson, Olga D and Egan, Josephine M and Böhringer, Stefan and van Heemst, Diana and Kedenko, Lyudmyla and Kristiansson, Kati and Nuotio, Marja-Liisa and Loo, Britt-Marie and Harris, Tamara and Garcia, Melissa and Kanaya, Alka and Haun, Margot and Klopp, Norman and Wichmann, H.-Erich and Deloukas, Panos and Katsareli, Efi and Couper, David J and Duncan, Bruce B and Kloppenburg, Margreet and Adair, Linda S and Borja, Judith B and Wilson, James G and Musani, Solomon and Guo, Xiuqing and Johnson, Toby and Semple, Robert and Teslovich, Tanya M and Allison, Matthew A and Redline, Susan and Buxbaum, Sarah G and Mohlke, Karen L and Meulenbelt, Ingrid and Ballantyne, Christie M and Dedoussis, George V and Hu, Frank B and Liu, Yongmei and Paulweber, Bernhard and Spector, Timothy D and Slagboom, P. Eline and Ferrucci, Luigi and Jula, Antti and Perola, Markus and Raitakari, Olli and Florez, Jose C and Salomaa, Veikko and ... and GLGC Investigators and DIAGRAM Consortium and MAGIC Consortium and MuTHER Consortium and Global B Pgen Consortium and MAGIC investigators and Procardis Consortium and DIAGRAM+ Consortium and GLGC Consortium and GIANT Consortium
PLoS genetics, ISSN 1553-7390, 2012, Volume 8, Issue 3, pp. e1002607 - e1002607
Journal Article
Cell Metabolism, ISSN 1550-4131, 08/2016, Volume 24, Issue 2, pp. 234 - 245
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2015, Volume 47, Issue 4, pp. 338 - 344
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 835 - 846
Phosphoglucomutase 1 ( ) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-1-P. Mutations in cause impairment in glycogen metabolism and... 
central carbon metabolism | PGM1-CDG | mitochondria | CDG | glycosylation | galactose | nucleotide sugars | tracer metabolomics | GALACTOSE SUPPLEMENTATION | CELLS | GENETICS & HEREDITY | CONGENITAL DISORDERS | PHENOTYPE | IDENTIFICATION | DEFICIENCY
Journal Article