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Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation 双等位UGGT1变异导致先天性糖基化障碍 Dardas, Z; Harrold, L; Calame, DG; Salter, CG; Kikuma, T; Guay, KP; Ng, BG; Sano, K; Saad, AK; Du, HW; Sangermano, R; Patankar, SG; Jhangiani, SN; Gürsoy, S; Abdel-Hamid, MS; Ahmed, MKH; Maroofian, R; Kaiyrzhanov, R; Salayev, K; Jones, WD; Caballero, AP; McGavin, L; Spiller, M; Durkie, M; Wood, N; O'Grady, L; Goldenberg, P; Neumeyer, AM; Begtrup, A; Abdel-Ghafar, SF; Zaki, MS; Van Esch, H; Posey, JE; Wenger, OK; Scott, EM; Bujakowska, KM; Gibbs, RA; Pehlivan, D; Marafi, D; Leslie, JS; Ubeyratna, N; Day, J; Owens, M; Settle, J; Balkhy, S; Tamim, A; Alabdi, L; Alkuraya, FS; Takeda, Y; Freeze, HH; Hebert, DN; Lupski, JR; Crosby, AH; Baple, EL 分享 收藏
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines Shah, Rameen; Eklund, Erik A.; Radenkovic, Silvia; Sadek, Mustafa; Shammas, Ibrahim; Verberkmoes, Sanne; Ng, Bobby G.; Freeze, Hudson H.; Edmondson, Andrew C.; He, Miao; Kozicz, Tamas; Altassan, Ruqaiah; Morava, Eva 分享 收藏
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Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement Mahajan, Sonal; Ng, Bobby George; AlAbdi, Lama; Earnest, Paul Daniel James; Sosicka, Paulina; Patel, Nisha; Helaby, Rana; Abdulwahab, Firdous; He, Miao; Alkuraya, Fowzan S.; Freeze, Hudson H. 分享 收藏
Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions Sosicka, Paulina; Ng, Bobby G.; Pepi, Lauren E.; Shajahan, Asif; Wong, Maurice; Scott, David A.; Matsumoto, Kenjiroo; Xia, Zhi-Jie; Lebrilla, Carlito B.; Haltiwanger, Robert S.; Azadi, Parastoo; Freeze, Hudson H. 分享 收藏
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation Shimada, Shino; Ng, Bobby G.; White, Amy L.; Nickander, Kim K.; Turgeon, Coleman; Liedtke, Kristen L.; Lam, Christina T.; Font-Montgomery, Esperanza; Lourenco, Charles M.; He, Miao; Peck, Dawn S.; Umana, Luis A.; Uhles, Crescenda L.; Haynes, Devon; Wheeler, Patricia G.; Bamshad, Michael J.; Nickerson, Deborah A.; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M.; Scalco, Fernanda B.; Martinez, Noelia N.; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah, V; Scheffer, Ingrid E.; Rosenzweig, Sergio D.; Adams, David R.; Gahl, William A.; Malicdan, May Christine, V; Raymond, Kimiyo M.; Freeze, Hudson H.; Wolfe, Lynne A. 分享 收藏
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Wilson, Matthew P.; Durin, Zoe; Unal, Ozlem; Ng, Bobby G.; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gunduz, Mehmet; Kose, Guluen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H.; Jaeken, Jaak; Foulquier, Francois; Matthijs, Gert 分享 收藏
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. 分享 收藏
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy del Cano-Ochoa, Francisco; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M. Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramon-Maiques, Santiago 分享 收藏
Defining the clinical phenotype of Saul-Wilson syndrome 定义saul-wilson综合征的临床表型 Ferreira, Carlos R.; Zein, Wadih M.; Huryn, Laryssa A.; Merker, Andrea; Berger, Seth I.; Wilson, William G.; Tiller, George E.; Wolfe, Lynne A.; Merideth, Melissa; Carvalho, Daniel R.; Duker, Angela L.; Bratke, Heiko; Haug, Marte Gjol; Rohena, Luis; Hove, Hanne B.; Xia, Zhi-Jie; Ng, Bobby G.; Freeze, Hudson H.; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L.; Tham, Emma; Nishimura, Gen; Phillips, John A.; Gahl, William A.; Hamid, Rizwan; Jackson, Andrew P.; Grigelioniene, Giedre; Bober, Michael B. 分享 收藏
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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon-Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjorg; Haven, Jaclyn; Heron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenco, Charles Marques; Mak, Christopher C. Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G. S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zoee; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H. 分享 收藏
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation Ng, Bobby G.; Rosenfeld, Jill A.; Emrick, Lisa; Jain, Mahim; Barrage, Lindsay C.; Lee, Brendan; Craigen, William J.; Bearden, David R.; Graham, Brett H.; Freeze, Hudson H. 分享 收藏
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