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Clinical and biochemical characterization of four patients with mutations in ECHS1.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Ferdinandusse S, et al. Among authors: bloom k. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1. Orphanet J Rare Dis. 2015. PMID: 26081110 Free PMC article.
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. Ganetzky RD, et al. Among authors: bloom k. JIMD Rep. 2016;30:33-37. doi: 10.1007/8904_2016_538. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26920905 Free PMC article.
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus.
Bloom K, Mohsen AW, Karunanidhi A, El Demellawy D, Reyes-Múgica M, Wang Y, Ghaloul-Gonzalez L, Otsubo C, Tobita K, Muzumdar R, Gong Z, Tas E, Basu S, Chen J, Bennett M, Hoppel C, Vockley J. Bloom K, et al. J Inherit Metab Dis. 2018 Jan;41(1):49-57. doi: 10.1007/s10545-017-0013-y. Epub 2017 Jan 24. J Inherit Metab Dis. 2018. PMID: 28120165 Free PMC article.
The disparate burden of infectious diseases.
Bloom K. Bloom K. Gene Ther. 2024 Nov 11. doi: 10.1038/s41434-024-00501-w. Online ahead of print. Gene Ther. 2024. PMID: 39528789 No abstract available.
Search for the Z Boson Decay to ττμμ in Proton-Proton Collisions at sqrt[s]=13  TeV.
Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Hussain PS, Jeitler M, Krammer N, Li A, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Breugelmans N, D'Hondt J, Dansana S, De Moor A, Delcourt M, Heyen F, Lowette S, Makarenko I, Müller D, Tavernier S, Tytgat M, Van Onsem GP, Van Putte S, Vannerom D, Clerbaux B, Das AK, De Lentdecker G, Evard H, Favart L, Gianneios P, Hohov D, Jaramillo J, Khalilzadeh A, Khan FA, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Thomas L, Vanden Bemden M, Vander Velde C, Vanlaer P, De Coen M, Dobur D, Gokbulut G, Hong Y, Knolle J, Lambrecht L, Marckx D, Mestdach G, Mota Amarilo K, Rendón C, Samalan A, Skovpen K, Van Den Bossche N, van der Linden J, Wezenbeek L, Benecke A, Bethani A, Bruno G, Caputo C, De Favereau De Jeneret J, Delaere C, Donertas IS, Giammanco A, Guzel AO, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Tran TT, Wertz S, Alves GA, Coelho E, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Vilela Pereira A, Aldá Júnior WL, Alves Gallo Pereira M, Barroso Ferreira Filho M, … See abstract for full author list ➔ Hayrapetyan A, et al. Among authors: bloom k. Phys Rev Lett. 2024 Oct 18;133(16):161805. doi: 10.1103/PhysRevLett.133.161805. Phys Rev Lett. 2024. PMID: 39485967
945 results