日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Brain malformations and seizures by impaired chaperonin function of TRiC

TRiC分子伴侣功能受损导致脑畸形和癫痫发作

Kraft, Florian; Rodriguez-Aliaga, Piere; Yuan, Weimin; Franken, Lena; Zajt, Kamil; Hasan, Dimah; Lee, Ting-Ting; Flex, Elisabetta; Hentschel, Andreas; Innes, A Micheil; Zheng, Bixia; Julia Suh, Dong Sun; Knopp, Cordula; Lausberg, Eva; Krause, Jeremias; Zhang, Xiaomeng; Trapane, Pamela; Carroll, Riley; McClatchey, Martin; Fry, Andrew E; Wang, Lisa; Giesselmann, Sebastian; Hoang, Hieu; Baldridge, Dustin; Silverman, Gary A; Radio, Francesca Clementina; Bertini, Enrico; Ciolfi, Andrea; Blood, Katherine A; de Sainte Agathe, Jean-Madeleine; Charles, Perrine; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Diderich, Karin; Streff, Haley; Robak, Laurie; Oegema, Renske; van Binsbergen, Ellen; Herriges, John; Saunders, Carol J; Maier, Andrea; Wolking, Stefan; Weber, Yvonne; Lochmüller, Hanns; Meyer, Stefanie; Aleman, Alberto; Polavarapu, Kiran; Nicolas, Gael; Goldenberg, Alice; Guyant, Lucie; Pope, Kathleen; Hehmeyer, Katherine N; Monaghan, Kristin G; Quade, Annegret; Smol, Thomas; Caumes, Roseline; Duerinckx, Sarah; Depondt, Chantal; Van Paesschen, Wim; Rieubland, Claudine; Poloni, Claudia; Guipponi, Michel; Arcioni, Severine; Meuwissen, Marije; Jansen, Anna C; Rosenblum, Jessica; Haack, Tobias B; Bertrand, Miriam; Gerstner, Lea; Magg, Janine; Riess, Olaf; Schulz, Jörg B; Wagner, Norbert; Wiesmann, Martin; Weis, Joachim; Eggermann, Thomas; Begemann, Matthias; Roos, Andreas; Häusler, Martin; Schedl, Tim; Tartaglia, Marco; Bremer, Juliane; Pak, Stephen C; Frydman, Judith; Elbracht, Miriam; Kurth, Ingo

ODP057 The Unusual Case of Hypercortisolism in a Patient with Juvenile Onset Hypophosphatasia

ODP057 一例青少年起病型低磷酸血症患者的罕见高皮质醇血症病例

Azmath, Misbah; Bendaram, Snigdha Reddy; Ferreira, Jennifer; Tafader, Asiya; Luong, Lucas; Velamakanni, Sruti; Mirza, Faryal; Otsubo, Yuri; Shimada, Hiroki; Yokoyama, Atsushi; Sugawara, Akira; Patra, Shinjan; Roy, Ayan; Aleman, Lorianna; Burks, James; Malik, Sonika; Burghard, Anne Claire; Fisher*, Anna Sonnett; Rahming, Virginia L; Zitsman, Jeffrey; Oberfield, Sharon E; Fennoy, Ilene; Siqueira, Hiloma; Faria, Erika; Furtado, Adriana; Oliveira, Pedro Philippo; Neto, Nicãcio; Oliveira, Alana; Cunha, Jessica; Milward, Marina; Rosa, Isabella; Lima, Cristiane; Carvalho-Louro, Daniela Marino; Anwaar, Neelum; Chang Villacreses, Maria M; Chiu, Ken; Donangelo, Ines Dr; Koh, Michelle; Lei, Lei Dr; Kabir, Purnima; Lewis, Chantal; Peñaherrera, Carlos A; Foster, Timothy; Bernier, Angelina; Shou, Matthew; Siv, Walter; Debo, Joshua; Sellick, Katelyn; Reuter, Austin; Stanley, Jade E; Danielle Dean, E; Patel, Toral; Arora, Gunjan; Crossen, Stephanie; Glaser, Nicole; Romero, Crystal; Cole, Timothy; Lao, Jianshen; Ng, Judy; Short, Kelly; Welch, Lurah; Welch, Lurah; Maldonado, Leopoldo; Banadera, Felix; Trapane, Pamela; Hasan, Reham; Benson, Matthew; Levine, Michael; Mauras, Nelly; Carrillo-Iregui, Adriana; Bishop, Meredith; Granados, Andrea; Pagan, Pedro; Arteaga, Yadmara; Verme, Jacquelyn; Alvarez-Salvat, Rose; Carrillo-Iregui, Adriana; Haines, Melanie; Kimball, Allison; Meenaghan, Erinne; Strauch, Julianne; Colling, Caitlin; Singhal, Vibha; Eddy, Kamryn; Misra, Madhusmita; Miller, Karen; Antezana, Vania Lizzeth Escobar; Dorado, Juan Pablo Hayes; Justiniano, Walter Montero; Colque, Doris Maribel Totola; Parada, Valeria Urizar; Arias, Paola Andrea Colque; Richstein, Ryan; Schulman-Rosenbaum, Rifka; Costello, James; Danis, Etienne; Goodspeed, Andrew; Mohammed, Hisham; Sottnik, Joseph; Sikora, Matthew; Gurnurkar, Shilpa; Vyas, Neha; Seekford, Jennifer Leigh; Khine, Aye; Yin, Ngwe; Boocock, David; Coveney, Clare; Creighton, Jade; Doig, Craig; Sale, Craig; Weir, Nick; Younis, Awais; Tan, Arnold; Everett, Estelle; Freeby, Matthew; Gaffny, Kailee; Educator, Certified Diabetes; Fu, Weixuan; Joshi, Apoorva; Pinney, Sara Elizabeth; Tarapore, Pheruza; Wang, Zhiping; Green, Stephanie; Hou, Tim; Kraus, W Lee; Young, Morag; Charni-Natan, Meital; Goldberg, Dana; Goldstein, Ido; Chale-Matsau, Bettina; Van Staden, Louis P; Kemp, Tanja; Pillay, Tahir S; Abdulateef, Salwan; Farhan, Sufyan M; Awad, Muthanna M; Mohammed, Thafer T; Al-Ani, Mohammed Q; Al-Hamdani, Adel; Atila, Cihan; Loughrey, Paul Benjamin; Garrahy, Aoife; Winzeler, Bettina; Refardt, Julie; Gildroy, Patricia; Tarig Hamza, Malak El Tahra; Pal, Aparna; Thompson, Chris John; Verbalis, Joseph G; Hunter, Steven J; Levy, Miles J; Mark, Sherlock; Karavitaki, Niki; Newell-Price, John D C; Wass, John A H; Christ-Crain, Mirjam; Orozco, Bruno; de Oliveira, Otavio Lima; Haddad, João Victor Magliari; de Macedo, Luciana Pereira; Nurse, Graduate; de Amorim, Alessandra Toledo; Nurse, Graduate; Alvares, Leonardo Azevedo Mobilia; dos Santos, Livia Marcela; Idriss, Setana; Shaikhoun, Mazin; Ahmad, Rehan; Bella, Sama; Elhamdani, Rawan; Benhamed, Nesreen; Saeed, Zainab; Abdelmasih, Randa; Ashraf, Bilal; Labib, Christine; Ramharrack, Frank; Ahsun, Sana; Patamopron, Lekprasert; Win, Kay Khine; Jamal, Yusra; Camacho, Yudi; Mullally, Jamie; Sutharsan, Shamila; Singarayar, Dr Carolina; Foo, Dr Siew Hui; Camacho, Yudi; Jamal, Yusra; Brutsaert, Erica; Goswami, Gayotri; Aviles Melendez, Astrid M; Alvarez, Jesenia De Jesus; Torres, Yineli Ortiz; Perez, Alexandra Rodriguez; Vazquez, Adriana Torres; De la Cruz, Cesar Trabanco; Rivera, Nahomie Veguilla; Musurakis, Clio; Rimal, Priya; Gilden, Janice L; Karuppasamy, Gowri; Farooqi, Amer; Sajid, Sadia; Elouzi, Elhadi; Lambert, Peter; Baker, Mary; Bagby, Stacey; Foust, Lindsey; Habra, Mouhammed Amir; Kiseljak-Vassiliades, Katja; Pitts, Todd; Pozdeyev, Nikita; Wierman, Margaret E; Kar, Adwitiya; Chien, Daniel; Figueroa, Isai; Wu, Gloria; Zhao, Weichen; Azizan, Elena Aisha; Sukor, Norlela; Zakaria, Rozman; Nazri, Syed Mohammed; Khadijah, Siti; Gosmanova, Albina; Gosmanov, Camil; Scofield, Hal; Azova, Svetlana; Basham, Kaitlin; Breault, David; Hammer, Gary; LaPensee, Christopher; O’Connell, Amy; Ribeiro, Claudio; Silva Borges, Kleiton; Turcu, Adina; Little III, Donald; Betz, Stephen; Ferrara-Cook, Christine; Hernandez-Illas, Martha; Luo, Rosa; Madan, Ajay; Miller, Stephanie; Struthers, Scott; Trainer, Peter; Wang, Yang; Krasner, Alan; Ramdhanie, Lisa Indira; Pinsker, Richard; Cervellione, Kelly; Altieri, Barbara; Appenzeller, Silke; Arlt, Wiebke; Asia, Miriam; Chortis, Vasileios; Elhassan, Yasir S; Fassnacht, Martin; Kircher, Stefan; Landwehr, Laura-Sophie; Lippert, Juliane; Prete, Alessandro; Smith, Gabrielle; Steinhauer, Sonja; Urlaub, Hanna; Ronchi, Cristina; Bharucha, Kamal; Weinstein, Debra; Kirby, Kathleen; Auchus, Richard; Geffner, Mitchell; Kim, Mimi; Sarafoglou, Kyriakie; Williams, Rachel; Shaywitz, Adam; Loughner, Chelsea L; Mahmood, Ejaz; Beronio, Rae Angeli; Pingoy, Noel; Galia, Analyza; Cheng, Keren; Moriwaki, Taku; Seita, Yasunari; Sasaki, Kotaro; Rolim, Marina Rocha; Mendonça, Berenice Bilharinho; Ledesma, Felipe; Charchar, Helaine; Srougi, Victor; Tanno, Fabio; Chambo, José Luis; Almeida, Madson Queiroz; Latronico, Ana Claudia; Fragoso, Maria Candida Villares; Andalahao, Edzele Marie Fernandez; Bao, Ginny; Chang, Christine; Price, Austin; Yin, Anthony; Maler, Neal; Idriss, Almoatazbellah

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

苹果酸脱氢酶 2 缺乏症是儿童癫痫性脑病的一个新兴病因,具有可识别的生化特征

Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Paloma C Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M Sriniva

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1

影响 p.Met1149、p.Arg1276 和 p.Lys1423 的致病性 NF1 错义变异患者的临床谱:1 型神经纤维瘤病的基因型-表型研究

Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald G; Bengala, Mario; Bennett, James T; Chambers, Chelsea; Clarkson, Lola K; Clementi, Maurizio; Cortés, Fanny M; Cunningham, Mitch; D'Agostino, M Daniela; Delatycki, Martin B; Digilio, Maria C; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert S; Griffis, Cristin; Gripp, Karen W; Gupta, Punita; Haan, Eric; Hachen, Rachel K; Haygarth, Tamara L; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert J; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce R; Lewis, Andrea M; Liebelt, Jan; Lichty, Angie; Listernick, Robert H; Lyons, Michael J; Maystadt, Isabelle; Martinez Ojeda, Mayra; McDougall, Carey; McGregor, Lesley K; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata J M; Ortenberg, June; Panzer, Karin; Pappas, John G; Pierpont, Mary Ella; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko K; Pond, Dinel A; Powell, Cynthia M; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S Lane; Saletti, Veronica; Sandaradura, Sarah A; Santoro, Claudia; Schatz, Ulrich A; Schreiber, Allison; Scott, Daryl A; Sellars, Elizabeth A; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John M; Smith, Rosemarie; Spalice, Alberto; Stockton, David W; Streff, Haley; Theos, Amy; Tomlinson, Gail E; Tran, Grace; Trapane, Pamela L; Trevisson, Eva; Ullrich, Nicole J; Van den Ende, Jenneke; Schrier Vergano, Samantha A; Wallace, Stephanie E; Wangler, Michael F; Weaver, David D; Yohay, Kaleb H; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen B M; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; De Luca, Alessandro; Legius, Eric; Messiaen, Ludwine M

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation

更正:扩展NF1基因3 bp框内缺失(c.2970_2972del)患者的临床表型:基因型-表型相关性的更新

Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D; Aylsworth, Arthur S; Azizi, Amedeo A; Basel, Donald G; Bellus, Gary; Bird, Lynne M; Blazo, Maria A; Burke, Leah W; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C; Dills, Shelley K; Dosa, Laura; Greenwood, Robert S; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J; Jordan, Justin T; Kannu, Peter; Korf, Bruce R; Lewis, Andrea M; Listernick, Robert H; Lonardo, Fortunato; Mahoney, Maurice J; Ojeda, Mayra Martinez; McDonald, Marie T; McDougall, Carey; Mendelsohn, Nancy; Miller, David T; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A; Randolph, Linda M; Rauen, Katherine A; Rednam, Surya; Rutledge, S Lane; Saletti, Veronica; Schaefer, G Bradley; Schorry, Elizabeth K; Scott, Daryl A; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J; Syed, Ashraf; Trapane, Pamela L; Ullrich, Nicole J; Wakefield, Emily G; Walsh, Laurence E; Wangler, Michael F; Zackai, Elaine; Claes, Kathleen B M; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

FOXF1 中反复出现的 8 bp 移码插入/缺失突变定义了一个新的突变热点,该热点与肺泡毛细血管发育不良和肺静脉错位有关。

Karolak, Justyna A; Bacolla, Albino; Liu, Qian; Lantz, Patrick E; Petty, John; Trapane, Pamela; Panzer, Karin; Totapally, Balagangadhar R; Niu, Zhiyv; Xiao, Rui; Xie, Nina G; Wu, Lucia R; Szafranski, Przemyslaw; Zhang, David Y; Stankiewicz, Paweł

MON-405 Cushing's Disease: An Oligosymptomatic Patient with ACTH-Secreting Pituitary Macroadenoma

MON-405 库欣病:一例少症状患者伴有促肾上腺皮质激素(ACTH)分泌性垂体大腺瘤

Farnoosh, Rahman; Abnoosian, Karlo; Isewid, Rasha Abbas; Fathima, Madiha; Khan, Abid; Gilden, Janice; Azocar Villalobos, Jorge L; Gonzales, Kristen; Lopez, Adar; Borger, Ophir; Issan, Yael; Interator, Hagar; Yackobovitch-Gavan, Michal; Cohen-Sela, Eyal; Azoulay, Erez; Perl, Liat; Moran-Lev, Hadar; Lubetzky, Ronit; Lebenthal, Yael; Brener, Avivit; Azocar Villalobos, Jorge L; Lane, Chelsea; Ereifej, Lisa; Dorin, Richard I; Aguirre, Lina E; Lung, John; Bang, Neha; Pandey, Manu; Punni, Emma; Goyal, Itivrita; Desai, Ruchi; Sidra, Fnu; Mirfakhraee, Sasan; Liwei, Jia; Polanco, Patricio; Al Mutar, Salwan; Hamidi, Oksana; Winnicki, Kamil; Ahmed, Zayd A; Olson, Guy; Porter, Tama; Melanthiou, Andriane; Incer-Obando, Maria A; Bhalla, Meeta; Galagan, Robert; Brott, Nathan R; Kandimalla, Likhita; Hollie, Matthew; Graner, Brian; Erickson, Dana Z; Donegan, Diane; Reddy, Vasudha; Gowda, Adi; Vattipally, Vihaan; Kunduru, Deepthi; Reddy, Vasudha; Gowda, Adi; Vattipally, Vihaan; Kunduru, Deepthi; Majeed, Hafsa; Nguyen, Christina; Galagan, Robert; Lovre, Dragana; Ahsan, E; Foo, F F; Lesniak, C; Akula, M; Hu, K; Ong, R; Chalasani, K; Cheng, J; Holland, S; Grennan, Krista N; Thota-Kammili, Sanjana; McKenna, Amanda L; Coyle, Catherine G; Samson, Susan L; Fatima, Sanna; Champion, Amber; Ward, Samuel; Aziz, Qurrat-ul-ain; Izuora, Kenneth E; Allen, M; Beck, R T; Zwagerman, N T; Ryzka, R J; Coss, D; Fisco, A; Ioachimescu, A G; SIDDIQUI, Mahrukh; Rafat, Ummara; Shaik, Shayann; Gilden, Janice L; Hossain, Md Shajjad; Tiwari, Bishal; Gautam, Bharat; Hossain, Sadaf; Kumar, Salini Chellappan; Rosenthal, David S; Liao, Huijuan; Papadopoulou-Marketou, Nektaria; Papageorgiou, Anna; Vavetsis, George; Panagiotis, Tsiamyrtzis; Chrousos, George P; rimal, priya; Moeed, Maryam; Musurakis, Clio; Ojha, Ankita; Akhtar, Wajeeha; Barsano, Charles P; Fatima Siddiqui, Mahwash; Shi, Meng Zhu; AlRubaish, Fatima; Gupta, Nisha; Larouche, Vincent; Christopoulos, Stavroula; Arya, Yajur; Syal, Arshi; Teja Sathi, Sri Ram; Valerie Mayrin, Jane; De la Peña Sosa, Gustavo; Hernández, Abraham Cabello; Gómez Sámano, Miguel Ángel; Gómez Pérez, Francisco Javier; Antony, Mc Anto; Gundlapally, Sindhusha; Joglekar, Mansi; Fritz, Brittany Nicole; Patel, Siddharth; Verma, Vipin; Kant, Ravi; Welch, Lurah; Welch, Lurah; Maldonado, Leopoldo; Banadera, Felix; Trapane, Pamela; Hasan, Reham; Benson, Matthew; Levine, Michael; Mauras, Nelly; Musurakis, Clio; Marenych, Nadiia; Trendafilova, Victoria; Kircheva, Diana; Gilden, Janice L; Gastelum, Alheli Arce; Mao, Jimmy J; Woods, Gina N; Atsumi, Tatsuya; Sekizaki, Tomonori; Kameda, Hiraku; Nakamura, Akinobu; Miya, Aika; Nomoto, Hiroshi; Yong Cho, Kyu; Motegi, Hiroaki; Miyoshi, Hideaki; Téblick, Arno; Vanhorebeek, Ilse; Derese, Inge; Jacobs, An; Haghedooren, Renate; Maebe, Sofie; Zeilmaker-Roest, Gerdien A; Rink, Christine; Wildschut, Enno D; Langouche, Lies; Van den Berghe, Greet; Paz-Ibarra, Jose; Gilvonio-Huauya, Edwars; Sueldo-Espinoza, Diego; Gago-Cajacuri, George; Concepción-Zavaleta, Marcio; Ramos-Yataco, Anthony; Jeng, Henry Shiheng; Knoll, Michelle; Del Viso, Florencia; Baker, Darren; Repnikova, Elena; Feldt, Matthew Maximilian; Mathew, Jilcy Joy; Pichardo-Lowden, Ariana R; Al Qarni, Ali Ahmed; Alamoudi, Reem Mohammad; Shahid, Khalida; Almanei, Amal; Alotaibi, Muneera; AlAhmed, Jawharah; Duro, Teodor; Palinka, Bethany; Gomez, Nephtali; Codorniz, Kevin Anthony; Huang, Zhengxiang; Huang, Lili; Wang, Chengjian; Zhu, Shanli; Qi, Xinzhou; Chen, Yang; Zhang, Yanjun; Cowley, Michael A; Veldhuis, Johannes D; Chen, Chen; Diana, Tanja; Ungerer, Martin; Reimann, Andreas; Faßbender, Julia; Kanitz, Michael; Kahaly, George; Manrique Franco, Katty; Urday Ipanaque, Diana Liz; Curo Carrion, Nataly

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

ALG1-CDG:39例未报道患者的临床和分子特征分析

Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Van Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito-Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez-Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Matthijs, Gert; Freeze, Hudson H

Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation

患有ALG1(先天性糖基化障碍)的婴儿先天性肾病综合征

Harshman, Lyndsay A; Ng, Bobby G; Freeze, Hudson H; Trapane, Pamela; Dolezal, Anna; Brophy, Patrick D; Brumbaugh, Jane E