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A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution.
Chen YH, Tian W, Yasuda M, Ye Z, Song M, Mandel U, Kristensen C, Povolo L, Marques ARA, Čaval T, Heck AJR, Sampaio JL, Johannes L, Tsukimura T, Desnick R, Vakhrushev SY, Yang Z, Clausen H. Chen YH, et al. Among authors: desnick r. Front Bioeng Biotechnol. 2023 Feb 24;11:1128371. doi: 10.3389/fbioe.2023.1128371. eCollection 2023. Front Bioeng Biotechnol. 2023. PMID: 36911201 Free PMC article.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: desnick rj. bioRxiv [Preprint]. 2023 Feb 6:2023.02.06.527353. doi: 10.1101/2023.02.06.527353. bioRxiv. 2023. PMID: 36798224 Free PMC article. Updated. Preprint.
Anderson-Fabry disease management: role of the cardiologist.
Pieroni M, Namdar M, Olivotto I, Desnick RJ. Pieroni M, et al. Among authors: desnick rj. Eur Heart J. 2024 Apr 21;45(16):1395-1409. doi: 10.1093/eurheartj/ehae148. Eur Heart J. 2024. PMID: 38486361 Review.
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W, Sowlati-Hashjin S, Weile J, Hamilton R, Chawla A, Sheykhkarimli D, Gebbia M, Kishore N, Frésard L, Mustajoki S, Pischik E, Di Pierro E, Barbaro M, Floderus Y, Schmitt C, Gouya L, Colavin A, Nussbaum R, Friesema ECH, Kauppinen R, To-Figueras J, Aarsand AK, Desnick RJ, Garton M, Roth FP. van Loggerenberg W, et al. Among authors: desnick rj. Am J Hum Genet. 2023 Oct 5;110(10):1769-1786. doi: 10.1016/j.ajhg.2023.08.012. Epub 2023 Sep 19. Am J Hum Genet. 2023. PMID: 37729906 Free PMC article.
Congenital erythropoietic porphyria.
To-Figueras J, Erwin AL, Aguilera P, Millet O, Desnick RJ. To-Figueras J, et al. Among authors: desnick rj. Liver Int. 2024 May 8. doi: 10.1111/liv.15958. Online ahead of print. Liver Int. 2024. PMID: 38717058 Review.
Nonlinear Mixed-Effects Model of Z-Endoxifen Concentrations in Tamoxifen-Treated Patients from the CEPAM Cohort.
Mc Laughlin AM, Helland T, Klima F, Koolen SLW, van Schaik RHN, Mathijssen RHJ, Neven P, Swen JJ, Guchelaar HJ, Dalenc F, White-Koning M, Michelet R, Mikus G, Schroth W, Mürdter T, Brauch H, Schwab M, Søiland H, Mellgren G, Thomas F, Kloft C, Hertz DL; CYP2D6 Endoxifen Percentage Activity Model (CEPAM) Consortium. Mc Laughlin AM, et al. Clin Pharmacol Ther. 2024 Mar 18. doi: 10.1002/cpt.3238. Online ahead of print. Clin Pharmacol Ther. 2024. PMID: 38494911
Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey.
Macaluso M, Rothenberg ME, Ferkol T, Kuhnell P, Kaminski HJ, Kimberlin DW, Benatar M, Chehade M; Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4. Macaluso M, et al. JMIR Public Health Surveill. 2024 Feb 14;10:e48430. doi: 10.2196/48430. JMIR Public Health Surveill. 2024. PMID: 38354030 Free PMC article.
618 results