Search Results - "Erbs, Emilie"

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics by Erbs, Emilie, Brasen, Claus Lohman, Lund, Allan Meldgaard, Rasmussen, Maria

“…Nicotinamide adenine dinucleotide (NAD) is an essential cosubstrate/coenzyme in multiple cellular redox processes and a substrate in several non-redox…”
Get full text

The impact of mismatch repair status to the preoperative staging of local colon cancer: Implications for clinical management by Hansen, Torben, Erbs, Emilie, Trabjerg, Natacha D., Rafaelsen, Soeren Rafael, Lindebjerg, Jan, Jensen, Lars Henrik

“…Abstract only 16 Background: Computed tomography (CT) scan is standard in preoperative local staging of colon cancer. Tumours with a deficient mismatch repair…”
Get full text

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region by Erbs, Emilie, Fenger-Grøn, Jesper, Jacobsen, Cecilie Mondrup, Lildballe, Dorte Launholt, Rasmussen, Maria

“…Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5’ UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear…”
Get full text

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1 by Faergeman, Soren L., Bojesen, Anders B., Rasmussen, Maria, Becher, Naja, Andreasen, Lotte, Andersen, Brian N., Erbs, Emilie, Lildballe, Dorte L., Nielsen, Jens Erik K., Zilmer, Monica, Hammer, Trine Bjørg, Andersen, Mikkel Ø., Brasch-Andersen, Charlotte, Fagerberg, Christina R., Illum, Niels O., Thorup, Mette B., Gregersen, Pernille A.

“…Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep…”
Get full text