Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

121 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: radenkovic s. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Central nervous involvement is common in PGM1-CDG.
Radenkovic S, Witters P, Morava E. Radenkovic S, et al. Mol Genet Metab. 2018 Nov;125(3):200-204. doi: 10.1016/j.ymgme.2018.08.008. Epub 2018 Aug 21. Mol Genet Metab. 2018. PMID: 30262252 Review.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. Radenkovic S, et al. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982613 Free PMC article.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T. Čechová A, et al. Among authors: radenkovic s. J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21. J Inherit Metab Dis. 2020. PMID: 32266963 Free PMC article. Review.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Radenkovic S, et al. Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17. Mol Genet Metab. 2021. PMID: 33129689 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: radenkovic s. 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
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Ligezka AN, et al. Among authors: radenkovic s. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. Ann Neurol. 2021. PMID: 34652821 Free PMC article.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. Radenkovic S, et al. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. Genet Med. 2022. PMID: 35042660 Free article.
Could distal variants in ALG13 lead to atypical clinical presentation?
Accogli A, Radenkovic S, Ranatunga W, Ligezka AN, Rivière JB, Morava E, Trakadis Y. Accogli A, et al. Among authors: radenkovic s. Eur J Med Genet. 2022 Apr;65(4):104473. doi: 10.1016/j.ejmg.2022.104473. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240324
121 results