未登录Sensitivity of transferrin isoform analysis for PMM2-CDG转铁蛋白异构体分析对PMM2-CDG的敏感性
Hall, Patrica L.; Liedke, Kris; Turgeon, Coleman; White, Amy; Pino, Gesele Bentz; Peck, Dawn; Studinski, April; Gavrilov, Dimitar; Tortorelli, Silvia; Oglesbee, Devin; Matern, Dietrich; Raymond, Kimiyo; Schultz, Matthew J. .png)
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收藏A complement C4-derived glycopeptide is a biomarker for PMM2-CDG补体C4-derived糖肽是PMM2-CDG的生物标志物Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S.; Jain, Anu; Ligezka, Anna N.; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C.; Sarafoglou, Kyriakie; Larson, Nicholas B.; Freeze, Hudson H.; Schultz, Matthew J.; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh 分享 收藏 Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylationShimada, 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 A new biochemical assay to measure plasmalogens with CLIR disease differentiationWegwerth, Peter; Gavrilov, Dimitar; White, Amy; Matern, Dietrich; Rinaldo, Piero; Oglesbee, Devin; Tortorelli, Silvia; Raymond, Kimiyo; Stoway, Stephanie; Loken, Perry 分享 收藏 The synergy of multiplex testing to screen for lysosomal disorders (LD)Pino, Gisele; Nickander, Kim; Studinski, April; Peck, Dawn; White, Amy; Lacey, Jean; Gavrilov, Dimitar; Oglesbee, Devin; Tortorelli, Silvia; Matern, Dietrich; Raymond, Kimiyo 分享 收藏 分享 收藏 Comparison of psychosine analysis in dried blood spots and red blood cells from children with Krabbe diseaseWhite, Amy L.; Escolar, Maria L.; Peck, Dawn; Pino, Gisele; Studinski, April; Hoganson, George E.; Kurtzberg, Joanne; Raymond, Kimiyo; Gavrilov, Dimitar; Oglesbee, Devin; Tortorelli, Silvia; Matern, Dietrich 分享 收藏 Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5Linders, Peter T. A.; Gerretsen, Eveline C. F.; Ashikov, Angel; Vals, Mari-Anne; de Boer, Rinse; Revelo, Natalia H.; Arts, Richard; Baerenfaenger, Melissa; Zijlstra, Fokje; Huijben, Karin; Raymond, Kimiyo; Muru, Kai; Fjodorova, Olga; Pajusalu, Sander; Ounap, Katrin; Ter Beest, Martin; Lefeber, Dirk; van den Bogaart, Geert 分享 收藏 Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic ImplicationsLigezka, Anna N.; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M.; Reid, Joel M.; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek-Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C.; Ghesquiere, Bart; Witters, Peter; Raymond, Kimiyo; Oglesbee, Devin; Pandey, Akhilesh; Perlstein, Ethan O.; Kozicz, Tamas; Morava, Eva 分享 收藏 A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunctionSLC37A4的突变导致以肝功能障碍为特征的先天性遗传性先天性糖基化障碍Ng, Bobby G.; Sosicka, Paulina; Fenaille, Francois; Harroche, Annie; Vuillaumier-Barrot, Sandrine; Porterfield, Mindy; Xia, Zhi-Jie; Wagner, Shannon; Bamshad, Michael J.; Vergnes-Boiteux, Marie-Christine; Cholet, Sophie; Dalton, Stephen; Dell, Anne; Dupre, Thierry; Fiore, Mathieu; Haslam, Stuart M.; Huguenin, Yohann; Kumagai, Tadahiro; Kulik, Michael; McGoogan, Katherine; Michot, Caroline; Nickerson, Deborah A.; Pascreau, Tiffany; Borgel, Delphine; Raymond, Kimiyo; Warad, Deepti; Flanagan-Steet, Heather; Steet, Richard; Tiemeyer, Michael; Seta, Nathalie; Bruneel, Arnaud; Freeze, Hudson H. 分享 收藏 NGLY1 Deficiency: A Rare Newly Described Condition with a Typical PresentationDabaj, Ivana; Sudrie-Arnaud, Benedicte; Lecoquierre, Francois; Raymond, Kimiyo; Ducatez, Franklin; Guerrot, Anne-Marie; Snanoudj, Sarah; Coutant, Sophie; Saugier-Veber, Pascale; Marret, Stephane; Nicolas, Gael; Tebani, Abdellah; Bekri, Soumeya 分享 收藏 分享 收藏 Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-upStarosta, Rodrigo Tzovenos; Boyer, Suzanne; Tahata, Shawn; Raymond, Kimiyo; Lee, Hee Eun; Wolfe, Lynne A.; Lam, Christina; Edmondson, Andrew C.; Doederlein Schwartz, Ida Vanessa; Morava, Eva 分享 收藏 Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseCannata Serio, Magda; Graham, Laurie A.; Ashikov, Angel; Larsen, Lars Elmann; Raymond, Kimiyo; Timal, Sharita; Le Meur, Gwenn; Ryan, Margret; Czarnowska, Elzbieta; Jansen, Jos C.; He, Miao; Ficicioglu, Can; Pichurin, Pavel; Hasadsri, Linda; Minassian, Berge; Rugierri, Alessandra; Kalimo, Hannu; Rios-Ocampo, W. Alfredo; Gilissen, Christian; Rodenburg, Richard; Jonker, Johan W.; Holleboom, Adriaan G.; Morava, Eva; Veltman, Joris A.; Socha, Piotr; Stevens, Tom H.; Simons, Matias; Lefeber, Dirk J. 分享 收藏 Laboratory monitoring of patients with hereditary tyrosinemia type ISchultz, Matthew J.; Netzel, Brian C.; Singh, Rani H.; Pino, Gisele B.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Rinaldo, Piero; Tortorelli, Silvia; Smith, Wendy E.; Matern, Dietrich 分享 收藏 The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe diseaseGuenzel, Adam J.; Turgeon, Coleman T.; Nickander, Kim K.; White, Amy L.; Peck, Dawn S.; Pino, Gisele B.; Studinski, April L.; Prasad, Vinod K.; Kurtzberg, Joanne; Escolar, Maria L.; Lasio, Maria Laura Duque; Pellegrino, Joan E.; Sakonju, Ai; Hickey, Rachel E.; Shallow, Natalie M.; Ream, Margie A.; Orsini, Joseph J.; Gelb, Michael H.; Raymond, Kimiyo; Gavrilov, Dimitar K.; Oglesbee, Devin; Rinaldo, Piero; Tortorelli, Silvia; Matern, Dietrich 分享 收藏 A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage DisordersSanders, Karen A.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Tortorelli, Silvia; Hopwood, John J.; Lorey, Fred; Majumdar, Ramanath; Kroll, Charles A.; McDonald, Amber M.; Lacey, Jean M.; Turgeon, Coleman T.; Tucker, Justin N.; Tang, Hao; Currier, Robert; Isaya, Grazia; Rinaldo, Piero; Matern, Dietrich 分享 收藏 Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function由GALNT2功能丧失引起的新型先天性O-连接糖基化障碍Zilmer, Monica; Edmondson, Andrew C.; Khetarpa, Sumeet A.; Alesi, Viola; Zaki, Maha S.; Rostasy, Kevin; Madsen, Camilla G.; Lepri, Francesca R.; Sinibaldi, Lorenzo; Cusmai, Raffaella; Novelli, Antonio; Issa, Mahmoud Y.; Fenger, Christina D.; Abou Jamra, Rami; Reutter, Heiko; Briuglia, Silvana; Agolini, Emanuele; Hansen, Lars; Petaja-Repo, Ulla E.; Hintze, John; Raymond, Kimiyo M.; Liedtke, Kristen; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G.; Vitali, Cecilia; O'Brien, W. Timothy; Gardella, Elena; Rubboli, Guido; Rader, Daniel J.; Schjoldager, Katrine T.; Moller, Rikke S. 分享 收藏 The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin MetabolismGavrilov, Dimitar K.; Piazza, Amy L.; Pino, Gisele; Turgeon, Coleman; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Tortorelli, Silvia; Rinaldo, Piero 分享 收藏 Defining a new immune deficiency syndrome: MAN2B2-CDGVerheijen, Jan; Wong, Sunnie Y.; Rowe, Jared H.; Raymond, Kimiyo; Stoddard, Jennifer; Delmonte, Ottavia M.; Bosticardo, Marita; Dobbs, Kerry; Niemela, Julie; Calzoni, Enrica; Pai, Sung-Yun; Choi, Uimook; Yamazaki, Yasuhiro; Comeau, Anne Marie; Janssen, Erin; Henderson, Lauren; Hazen, Melissa; Berry, Gerard; Rosenzweig, Sergio D.; Aldhekri, Hasan Hamdan; He, Miao; Notarangelo, Luigi D.; Morava, Eva 分享 收藏 
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