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Page 1
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. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
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. 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.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Witters P, et al. Among authors: altassan r. Genet Med. 2019 May;21(5):1181-1188. doi: 10.1038/s41436-018-0301-4. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293989 Free article.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC, Keng WT, Lapatto R, McClean P, Mulder MF, Tylki-Szymańska A, Walenkamp ME, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC. Williams M, et al. Among authors: altassan r. J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036. J Inherit Metab Dis. 2019. PMID: 30740741
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. Among authors: altassan r. 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: altassan r. 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.
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. 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.
30 results