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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients MMACHC变体c.158T>C: cblC患者的轻度临床和生化表型以及明显的羟钴胺素反应 Demaret, Tanguy; Bedard, Karine; Soucy, Jean-Francois; Watkins, David; Allard, Pierre; Levtova, Alina; O'Brien, Alan; Brunel-Guitton, Catherine; Rosenblatt, David S.; Mitchell, Grant A. 分享 收藏
Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping Fahiminiya, Somayyeh; Oikonomopoulos, Spyros; Rivard, Georges-Etienne; Gandhi, Mira; Scott, Patrick; Montpetit, Alexandre; Chen, Shu-Huang; Park, KyungHee; Vezina, Catherine; Ragoussis, Jiannis; Carvalho, Claudia M. B.; Mitchell, Grant A.; Soucy, Jean-Francois; Gauthier, Julie 分享 收藏
The multiple facets of acetyl-CoA metabolism: Energetics, biosynthesis, regulation, acylation and inborn errors 乙酰辅酶a代谢的多个方面: 能量学，生物合成，调节，酰化和先天性错误 Wang, Youlin; Yang, Hao; Geerts, Chloe; Furtos, Alexandra; Waters, Paula; Cyr, Denis; Wang, Shupei; Mitchell, Grant A. 分享 收藏
Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers Yang, Hao; Wang, Youlin; Tang, Marie-Christine; Waters, Paula; Wang, Shupei; Allard, Pierre; Ryan, Robert O.; Paradis, Pierre; Schiffrin, Ernesto L.; Furtos, Alexandra; Nuyt, Anne-Monique; Mitchell, Grant A. 分享 收藏
The Succinate Receptor SUCNR1 Resides at the Endoplasmic Reticulum and Relocates to the Plasma Membrane in Hypoxic Conditions 琥珀酸受体SUCNR1位于内质网，并在缺氧条件下重新定位到质膜 Sanchez, Melanie; Hamel, David; Bajon, Emmanuel; Duhamel, Francois; Bhosle, Vikrant K.; Zhu, Tang; Rivera, Jose Carlos; Dabouz, Rabah; Nadeau-Vallee, Mathieu; Sitaras, Nicholas; Tremblay, David-Etienne; Omri, Samy; Habelrih, Tiffany; Rouget, Raphael; Hou, Xin; Gobeil, Fernand; Joyal, Jean-Sebastien; Sapieha, Przemyslaw; Mitchell, Grant; Ribeiro-Da-Silva, Alfredo; Nezhady, Mohammad Ali Mohammad; Chemtob, Sylvain 分享 收藏
Triglyceride-derived fatty acids reduce autophagy in a model of retinal angiomatous proliferation Heckel, Emilie; Cagnone, Gael; Agnihotri, Tapan; Cakir, Bertan; Das, Ashim; Kim, Jin Sung; Kim, Nicholas; Lavoie, Genevieve; Situ, Anu; Pundir, Sheetal; Sun, Ye; Wunnemann, Florian; Pierce, Kerry A.; Dennis, Courtney; Mitchell, Grant A.; Chemtob, Sylvain; Rezende, Flavio A.; Andelfinger, Gregor; Clish, Clary B.; Roux, Philippe P.; Sapieha, Przemyslaw; Smith, Lois Eh; Joyal, Jean-Sebastien 分享 收藏
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course Zhao, Chen; Wang, Youlin; Yang, Hao; Wang, Shupei; Tang, Marie-Christine; Cyr, Denis; Parente, Fabienne; Allard, Pierre; Waters, Paula; Furtos, Alexandra; Yang, Gongshe; Mitchell, Grant A. 分享 收藏
Deficiency of ASGR1 in pigs recapitulates reduced risk factor for cardiovascular disease in humans 猪中ASGR1的缺乏使人类心血管疾病的危险因素降低 Xie, Baocai; Shi, Xiaochen; Li, Yan; Xia, Bo; Zhou, Jia; Du, Minjie; Xing, Xiangyang; Bai, Liang; Liu, Enqi; Alvarez, Fernando; Jin, Long; Deng, Shaoping; Mitchell, Grant A.; Pan, Dengke; Li, Mingzhou; Wu, Jiangwei 分享 收藏
A full molecular picture of F8 intron 1 inversion created with optical genome mapping Fahiminiya, Somayyeh; Rivard, Georges-Etienne; Scott, Patrick; Montpetit, Alexandre; Bacot, Francois; St-Louis, Jean; Mitchell, Grant A.; Foulkes, William D.; Soucy, Jean-Francois; Gauthier, Julie 分享 收藏
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T.; Kronick, Jonathan B.; Potter, Beth K.; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K. J.; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R.; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J.; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J.; Yu, Andrea C.; Yuskiv, Nataliya; Chakraborty, Pranesh 分享 收藏
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL Beauregard-Lacroix, Eliane; Salian, Smrithi; Kim, Hyunyun; Ehresmann, Sophie; D'Amours, Guylaine; Gauthier, Julie; Saillour, Virginie; Bernard, Genevieve; Mitchell, Grant A.; Soucy, Jean-Francois; Michaud, Jacques L.; Campeau, Philippe M. 分享 收藏
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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations Chinsky, Jeffrey M.; Singh, Rani; Ficicioglu, Can; van Karnebeek, Clara D. M.; Grompe, Markus; Mitchell, Grant; Waisbren, Susan E.; Gucsavas-Calikoglu, Muge; Wasserstein, Melissa P.; Coakley, Katie; Scott, C. Ronald 分享 收藏
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients Gruenert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrazova, Lenka; Balci, Mehmet Cihan; Bischof, Felix; Coker, Mahmut; Das, Anibh M.; Demirkol, Muebeccel; de Vries, Maaike; Goekcay, Gulden; Haeberle, Johannes; Ucar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Luecke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, Rene; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A.; Sass, Joern Oliver 分享 收藏
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