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Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy Lang, Steven H.; Salgado, Andres Caceres; Snyder, Matthew T.; Rawls-Castillo, Brandy; Williams, Aaron; Gijavanekar, Charul; Elsea, Sarah H.; Wang, Xia; Tessier, Mary Elizabeth M.; Soler-Alfonso, Claudia; Scaglia, Fernando 分享 收藏
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes Difalco, Charles R.; Gijavanekar, Charul; Wang, Yue; Grace, Alexandra N.; Machol, Keren; Emrick, Lisa; Liu, Ning; Mizerik, Elizabeth; Mackay, Laura; Dai, Hongzheng; Vossaert, Liesbeth; Xia, Fan; Elsea, Sarah H.; Scaglia, Fernando 分享 收藏
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series Pillai, Nishitha R.; Liu, Ning; Li, Xiyuan; Li, Xiqi; Ahrens-Nicklas, Rebecca; Adang, Laura; Eisengart, Julie B.; Bronken, Grace; Gupta, Ashish; Lund, Troy C.; Whitley, Chester B.; Elsea, Sarah H.; Orchard, Paul J. 分享 收藏
CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I CRISPR/Cas9基因疗法增加了I型遗传性酪氨酸血症小鼠模型中的肿瘤发生风险 Chen, Tong; Barzi, Mercedes; Furey, Nika; Kim, Hyunjae R.; Pankowicz, Francis P.; Legras, Xavier; Elsea, Sara H.; Hurley, Ayrea E.; Yang, Diane; Wheeler, David A.; Borowiak, Malgorzata; Bissig-Choisat, Beatrice; Sumazin, Pavel; Bissig, Karl-Dimiter 分享 收藏
Broadcasters, receivers, functional groups of metabolites, and the link to heart failure by revealing metabolomic network connectivity Yazdani, Azam; Mendez-Giraldez, Raul; Yazdani, Akram; Wang, Rui-Sheng; Schaid, Daniel J.; Kong, Sek Won; Hadi, M. Reza; Samiei, Ahmad; Samiei, Esmat; Wittenbecher, Clemens; Lasky-Su, Jessica; Clish, Clary B.; Muehlschlegel, Jochen D.; Marotta, Francesco; Loscalzo, Joseph; Mora, Samia; Chasman, Daniel I.; Larson, Martin G.; Elsea, Sarah H. 分享 收藏
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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L. 分享 收藏
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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder Shaath, Rulan; Al-Maraghi, Aljazi; Ali, Haytham; AlRayahi, Jehan; Kennedy, Adam D.; DeBalsi, Karen L.; Hussein, Sura; Elbashir, Najwa; Padmajeya, Sujitha S.; Palaniswamy, Sasirekha; Elsea, Sarah H.; Akil, Ammira A.; Yousri, Noha A.; Fakhro, Khalid A. 分享 收藏
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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023) Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad 分享 收藏
Precision Neurology for Dementia Shulman, Joshua; Vanegas-Arroyave, Nora; Fong, Jamie; Elsea, Sarah; Lin, Chi-ing; Saade, Hiba; Chavez, Fatima; Walker, Kimberly; Yuan, Bo; Venner, Eric; Hu, Jianhong; Levchenko, Ariel; Smith, Hadley; Robinson, Jill; Pascual, Belen; Muzny, Donna; Gibbs, Richard; McGuire, Amy; Masdeu, Joseph 分享 收藏
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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders McGee, Stacey R.; Rajamanickam, Shivakumar; Adhikari, Sandeep; Falayi, Oluwatosin C.; Wilson, Theresa A.; Shayota, Brian J.; Coleman, Jessica A. Cooley; Skinner, Cindy; Caylor, Raymond C.; Stevenson, Roger E.; Quaio, Caio Robledo D' Angioli Costa; Wilke, Berenice Cunha; Bain, Jennifer M.; Anyane-Yeboa, Kwame; Brown, Kaitlyn; Greally, John M.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A. L.; Politi, Keren; Arbogast, Lydia A.; Collard, Michael W.; Huggenvik, Jodi, I; Elsea, Sarah H.; Jensik, Philip J. 分享 收藏
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