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Austin Larson

University of Colorado System
H指数:26
被引数:2,582

个人简介

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工作经历

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荣誉奖项

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L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers

L-岩藻糖补充治疗全球岩藻糖基化降低及SLC35C1单等位基因变异患者的临床改善与生物标志物评估

Molecular Genetics and Metabolism
IF3.5
2026-01-010
PRE
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
Signs, symptoms, and health-related quality of life in MELAS: measuring what's important from the patient and clinician perspectives
JOURNAL OF PATIENT-REPORTED OUTCOMES
IF2.9
2025-10-270
OA
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
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis
Mitochondrion
IF4.5
2024-09-010
PRE
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
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort
MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-08-017
PRE
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
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

JCI INSIGHT
IF6.1
2024-04-081
OA
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
Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebocontrolled Phase 3 study (RESTORE)

评估鹅去氧胆酸治疗成年脑腱黄瘤病患者: 一项随机，安慰剂对照的3期研究 (RESTORE)

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-011
PRE
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
Tracer metabolomics reveals the role of aldose reductase in glycosylation

示踪代谢组学揭示醛糖还原酶在糖基化中的作用

CELL REPORTS MEDICINE
IF10.6
2023-06-0110
OAAI
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
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis
NATURE GENETICS
IF31.8
2022-07-219
OA
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

研究方向

暂未获取到该数据
J
Johan L.K. Van Hove
H 指数:45论文数:139被引数:6,813
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
A
Andrew C. Edmondson
H 指数:29论文数:113被引数:6,617
F
Fernando Scaglia
H 指数:68论文数:303被引数:1.5万
M
Marisa W. Friederich
H 指数:22论文数:56被引数:1,857
L
Laurence Faivre
H 指数:85论文数:716被引数:3.3万
P
Peter Witters
H 指数:33论文数:128被引数:3,345
C
Christina Lam
H 指数:21论文数:98被引数:1,951
K
Kimberly A. Kripps
H 指数:5论文数:15被引数:98
B
Bertrand Isidor
H 指数:72论文数:467被引数:1.7万