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Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: kirmse bm. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF. McGovern MM, et al. Among authors: kirmse b. Genet Med. 2016 Jan;18(1):34-40. doi: 10.1038/gim.2015.24. Epub 2015 Apr 2. Genet Med. 2016. PMID: 25834946 Free article. Clinical Trial.
Mind the gap.
Summar M, Kirmse B, Monaco J. Summar M, et al. Among authors: kirmse b. Mol Genet Metab. 2014 Sep-Oct;113(1-2):1. doi: 10.1016/j.ymgme.2014.08.005. Mol Genet Metab. 2014. PMID: 25261244 No abstract available.
The incidence of urea cycle disorders.
Summar ML, Koelker S, Freedenberg D, Le Mons C, Haberle J, Lee HS, Kirmse B; European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD). Electronic address: http://www.e-imd.org/en/index.phtml; Members of the Urea Cycle Disorders Consortium (UCDC). Electronic address: http://rarediseasesnetwork.epi.usf.edu/ucdc/. Summar ML, et al. Among authors: kirmse b. Mol Genet Metab. 2013 Sep-Oct;110(1-2):179-80. doi: 10.1016/j.ymgme.2013.07.008. Epub 2013 Jul 18. Mol Genet Metab. 2013. PMID: 23972786 Free PMC article.
48 results