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Year Number of Results
2004 1
2006 1
2007 2
2008 1
2009 1
2010 2
2011 1
2012 1
2013 1
2016 6
2017 13
2018 13
2019 8
2020 12
2021 13
2022 6
2023 4
2024 2

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73 results

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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: witters p. 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.
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study.
Tromp TR, Hartgers ML, Hovingh GK, Vallejo-Vaz AJ, Ray KK, Soran H, Freiberger T, Bertolini S, Harada-Shiba M, Blom DJ, Raal FJ, Cuchel M; Homozygous Familial Hypercholesterolaemia International Clinical Collaborators. Tromp TR, et al. Lancet. 2022 Feb 19;399(10326):719-728. doi: 10.1016/S0140-6736(21)02001-8. Epub 2022 Jan 28. Lancet. 2022. PMID: 35101175 Free PMC article.
Congenital Extrahepatic Portosystemic Shunts (Abernethy Malformation): An International Observational Study.
Baiges A, Turon F, Simón-Talero M, Tasayco S, Bueno J, Zekrini K, Plessier A, Franchi-Abella S, Guerin F, Mukund A, Eapen CE, Goel A, Shyamkumar NK, Coenen S, De Gottardi A, Majumdar A, Onali S, Shukla A, Carrilho FJ, Nacif L, Primignani M, Tosetti G, La Mura V, Nevens F, Witters P, Tripathi D, Tellez L, Martínez J, Álvarez-Navascués C, Fraile López ML, Procopet B, Piscaglia F, de Koning B, Llop E, Romero-Cristobal M, Tjwa E, Monescillo-Francia A, Senzolo M, Perez-LaFuente M, Segarra A, Sarin SK, Hernández-Gea V, Patch D, Laleman W, Hartog H, Valla D, Genescà J, García-Pagán JC; REHEVASC, VALDIG an EASL consortium, Abernethy group. Baiges A, et al. Among authors: witters p. Hepatology. 2020 Feb;71(2):658-669. doi: 10.1002/hep.30817. Epub 2019 Aug 19. Hepatology. 2020. PMID: 31211875 Free article.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: witters p. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. Among authors: witters p. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Renal involvement in PMM2-CDG, a mini-review.
Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Altassan R, et al. Among authors: witters p. Mol Genet Metab. 2018 Mar;123(3):292-296. doi: 10.1016/j.ymgme.2017.11.012. Epub 2017 Nov 28. Mol Genet Metab. 2018. PMID: 29229467 Review.
Genotype-Phenotype Correlations in PMM2-CDG.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P. Vaes L, et al. Among authors: witters p. Genes (Basel). 2021 Oct 21;12(11):1658. doi: 10.3390/genes12111658. Genes (Basel). 2021. PMID: 34828263 Free PMC article.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Radenkovic S, et al. Among authors: witters p. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30. Cell Rep Med. 2023. PMID: 37257447 Free PMC article.
Central nervous involvement is common in PGM1-CDG.
Radenkovic S, Witters P, Morava E. Radenkovic S, et al. Among authors: witters p. 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.
73 results