PMC Articles for MedGen (Select 344640) - PMC

Result Filters

Links from MedGen

Items: 2

Select item 52038591.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L. Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D. Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R. Baumgartner, Carlo Dionisi-Vici

J Inherit Metab Dis. 2017; 40(1): 21–48. Published online 2016 Nov 30. doi: 10.1007/s10545-016-9991-4

PMCID:: PMC5203859

Abstract Article PDF–909K

Select item 44820642.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

Bruno Palhais, Veronica S. Præstegaard, Rugivan Sabaratnam, Thomas Koed Doktor, Seraina Lutz, Patricie Burda, Terttu Suormala, Matthias Baumgartner, Brian Fowler, Gitte Hoffmann Bruun, Henriette Skovgaard Andersen, Viktor Kožich, Brage Storstein Andresen

Nucleic Acids Res. 2015 May 19; 43(9): 4627–4639. Published online 2015 Apr 15. doi: 10.1093/nar/gkv275