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Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Among authors: liedtke k. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM; UW Center for Mendelian Genomics; Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MCV, Raymond KM, Freeze HH, Wolfe LA. Shimada S, et al. Among authors: liedtke kl. J Med Genet. 2022 Jul 5:jmedgenet-2021-108177. doi: 10.1136/jmedgenet-2021-108177. Online ahead of print. J Med Genet. 2022. PMID: 35790351 Free PMC article.
A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. Perales-Clemente E, et al. Among authors: liedtke k. J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22. J Inherit Metab Dis. 2021. PMID: 34043239
Importance of ACE2 for SARS-CoV-2 Infection of Kidney Cells.
Kroll MK, Schloer S, Candan P, Korthals N, Wenzel C, Ihle H, Gilhaus K, Liedtke KR, Schöfbänker M, Surmann B, Schröter R, Neugebauer U, Mall G, Oswald S, Ludwig S, Rescher U, Vollenbröker B, Ciarimboli G. Kroll MK, et al. Among authors: liedtke kr. Biomolecules. 2023 Mar 3;13(3):472. doi: 10.3390/biom13030472. Biomolecules. 2023. PMID: 36979408 Free PMC article.
[Patient safety in differentiated (in-hospital) activation of the resuscitation room for severely injured patients].
Hagel S, Liedtke KR, Bax S, Wailke S, Klüter T, Behrendt P, Franke GM, Seekamp A, Langguth P, Balandin A, Grünewald M, Schunk D. Hagel S, et al. Among authors: liedtke kr. Unfallchirurgie (Heidelb). 2023 Jun;126(6):441-448. doi: 10.1007/s00113-022-01279-5. Epub 2023 Jan 9. Unfallchirurgie (Heidelb). 2023. PMID: 36622382 Free PMC article. German.
31 results