Not logged in L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers Starosta, Rodrigo T.; He, Miao; Gracie, Sara; Kierstein, Janell; Thiel, Christian; Himmelreich, Nastassja; Liu, Yupeng; Zhang, Wenyue; Edmondson, Andrew C.; Meeks, Naomi; Larson, Austin; Van Hove, Johan L. K.; Kochhar, Aaina Share Save
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Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives Medrano, Paolo; Banderas, Benjamin; Brimmer, Marisa; Settel, Lily; Berger, Sari; Shields, Alan; Goldstein, Amy; Karaa, Amel; Larson, Austin; Parikh, Sumit; Scaglia, Fernando; Harrington, Karra Danyelle; Edgar, Chris James; Ventola, Pamela; Webster, Matthew; Chickering, Jennifer; Gwaltney, Chad; Wilson, Phebe; Glasser, Chad Share Save
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Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes Verberkmoes, Sanne; Mazza, Gina L.; Edmondson, Andrew C.; Scaglia, Fernando; Horikoshi, Seishu; Kuschel, Bryce; Janssen, Mirian C. H.; Mousa, Jehan; Larson, Austin; Shah, Rameen; Mcdonald, Georgia; Sarafoglou, Kyriaki; Berry, Gerard; Kozicz, Tamas; Lam, Christina; Morava, Eva Share Save
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An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis Starosta, Rodrigo T.; Larson, Austin A.; Meeks, Naomi J. L.; Gracie, Sara; Friederich, Marisa W.; Gaughan, Sommer M.; Baker II, Peter R.; Knupp, Kelly G.; Michel, Cole R.; Reisdorph, Richard; Hock, Daniella H.; Stroud, David A.; Wood, Tim; Van Hove, Johan L. K. Share Save
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis Hove, Johan L. K. Van; Friederich, Marisa W.; Hock, Daniella H.; Stroud, David A.; Caruana, Nikeisha J.; Christians, Uwe; Schniedewind, Bjorn; Michel, Cole R.; Reisdorph, Richard; Gonzalez, Edwin D. J. Lopez; Brenner, Charles; Donovan, Tonia E.; Lee, Jessica C.; Chatfield, Kathryn C.; Larson, Austin A.; Baker, Peter R., II; McCandless, Shawn E.; Burk, Meghan F. Moore Share Save
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
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A complement C4-derived glycopeptide is a biomarker for PMM2-CDG 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 Share Save
Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebocontrolled Phase 3 study (RESTORE) DeBarber, Andrea; Kisanuki, Yaz; Nobrega, Paulo; Himes, Ryan; Jayadev, Suman; Bernat, John; Prakash, Vikram; Gibson, James; Larson, Austin; Sgobbi, Paulo; Murphy, Edward; Fedor, Brian; Foo, Cheryl Wong Po; Dutta, Rana; Imperiale, Michael; Garner, Will; Vig, Pamela; Duell, P. Barton; Perez, Sarah; Ramdhani, Ritesh; Saute, Jonas Share Save
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives Steiner, Robert D.; Debarber, Andrea; Larson, Austin; Blanchard, Bobbi; Laurie, Shawn; Odedara, Neel; Rosengrant, Hollisa; Dutta, Rana Share Save
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A new neurodevelopmental disorder linked to heterozygous variants in UNC79 Bayat, Allan; Liu, Zhenjiang; Luo, Sheng; Fenger, Christina D.; Hojte, Anne F.; Isidor, Bertrand; Cogne, Benjamin; Larson, Austin; Zanus, Caterina; Faletra, Flavio; Keren, Boris; Musante, Luciana; Gourfikel-An, Isabelle; Perrine, Charles; Demily, Caroline; Lesca, Gaeton; Liao, Weiping; Ren, Dejian Share Save
Tracer metabolomics reveals the role of aldose reductase in glycosylation Radenkovic, Silvia; Ligezka, Anna N.; Mokashi, Sneha S.; Driesen, Karen; Dukes-Rimsky, Lynn; Preston, Graeme; Owuocha, Luckio F.; Sabbagh, Leila; Mousa, Jehan; Lam, Christina; Edmondson, Andrew; Larson, Austin; Schultz, Matthew; Vermeersch, Pieter; Cassiman, David; Witters, Peter; Beamer, Lesa J.; Kozicz, Tamas; Flanagan-Steet, Heather; Ghesquiere, Bart; Morava, Eva Share Save
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis Traspas, Ricardo Moreno; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bezieau, Stephane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; San Lai, Poh; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Bin Wu; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrao, Anabela Natalia; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno Share Save
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila Chung, Hyung-Lok; Rump, Patrick; Lu, Di; Glassford, Megan R.; Mok, Jung-Wan; Fatih, Jawid; Basal, Adily; Marcogliese, Paul C.; Kanca, Oguz; Rapp, Michele; Fock, Johanna M.; Kamsteeg, Erik-Jan; Lupski, James R.; Larson, Austin; Haninbal, Mark C.; Bellen, Hugo; Harel, Tamar Share Save
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