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Profiling glycosphingolipid changes in mouse and human cellular models of lysosomal free sialic acid storage disorder 分析溶酶体游离唾液酸贮积症小鼠和人细胞模型中神经节苷脂的变化 Sabir, Marya S.; Dobrenis, Kostantin; Rha, Allisandra K.; Pollard, Laura; Leoyklang, Petcharat; Marrero, Mariah; Ciccone, Carla; Hackbarth, Mary E.; Huizing, Marjan; Wang, Raymond Y.; Gahl, William A.; Platt, Frances M.; Malicdan, May Christine V. 分享 收藏
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RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency RNA测序驱动的诊断扩展了NBAS缺乏症的表型谱 Silverstein, Sarah; Cassini, Thomas; Fu, Jiayu; Pusey, Barbara; Macnamara, Ellen; Frost, F. Graeme; Williams, Charlotte; Huang, Yan; Tifft, Cynthia J.; Gahl, William; Malicdan, May-Christine; Adams, David R. 分享 收藏
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Clinical, Laboratory, and Imaging Features Associated with Arginine Vasopressin Deficiency (Central Diabetes Insipidus) in Erdheim-Chester Disease (ECD) 与Erdheim-Chester疾病(ECD)中精氨酸加压素缺乏(中枢性尿崩症)相关的临床、实验室和影像学特征 Vaid, Sonal; Estrada-Veras, Juvianee; Gahl, William A.; Patronas, Nicholas; Dave, Rahul H.; Hannah-Shmouni, Fady; O'Brien, Kevin; Shekhar, Skand 分享 收藏
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica 分享 收藏
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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features Sharma, Prashant; McFadden, Jason R.; Frost, F. Graeme; Markello, Thomas C.; Grange, Dorothy K.; Introne, Wendy J.; Gahl, William A.; Malicdan, May Christine V. 分享 收藏
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. 分享 收藏
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder Morimoto, Marie; Ryu, Eunjin; Steger, Benjamin J.; Dixit, Abhijit; Saito, Yoshihiko; Yoo, Juyeong; van der Ven, Amelie T.; Hauser, Natalie; Steinbach, Peter J.; Oura, Kazumasa; Huang, Alden Y.; Kortum, Fanny; Ninomiya, Shinsuke; Rosenthal, Elisabeth A.; Robinson, Hannah K.; Guegan, Katie; Denecke, Jonas; Subramony, Sankarasubramoney H.; Diamonstein, Callie J.; Ping, Jie; Fenner, Mark; Balton, Elsa, V; Strohbehn, Sam; Allworth, Aimee; Bamshad, Michael J.; Gandhi, Mahi; Dipple, Katrina M.; Blue, Elizabeth E.; Jarvik, Gail P.; Lau, C. Christopher; Holm, Ingrid A.; Weisz-Hubshman, Monika; Solomon, Benjamin D.; Nelson, Stanley F.; Nishino, Ichizo; Adams, David R.; Kang, Sukhyun; Gahl, William A.; Toro, Camilo; Myung, Kyungjae; Malicdan, May Christine V. 分享 收藏
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Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC) Ferrante, Elisa A.; Cudrici, Cornelia D.; Rashidi, Mahmood; Fu, Yi-Ping; Huffstutler, Rebecca; Carney, Katherine; Chen, Marcus Y.; St Hilaire, Cynthia; Smith, Kevin; Bagheri, Hadi; Katz, James D.; Ferreira, Carlos R.; Gahl, William A.; Bohm, Manfred; Brofferio, Alessandra 分享 收藏
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Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types Sabir, Marya S.; Jovanovic, Vukasin M.; Pollard, Laura; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Gahl, William A.; Huizing, Marjan; Tristan, Carlos A.; Platt, Frances M.; Malicdan, May Christine V. 分享 收藏
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Cell-based functional assays for free sialic acid storage disorder Huizing, Marjan; Leoyklang, Petcharat; Hackbarth, Mary E.; Sabir, Marya S.; Dobrenis, Konstantin; Lion, Cedric; Rigolot, Vincent; Biot, Christophe; Adams, David R.; Gahl, William A.; Malicdan, May Christine 分享 收藏
Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD) Malicdan, May Christine; Adams, David R.; Brooks, P. J.; Dobrenis, Konstantin; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary E.; Hossain, Mahin; Leoyklang, Petcharat; Anne-Longin, Christine; Paavola, Liisa; Platt, Frances; Pollard, Laura; Reimer, Richard; Sabir, Marya S.; Wang, Raymond Y.; Walkley, Steven; Wasserstein, Melissa; Huizing, Marjan 分享 收藏
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