Medizinische Universität Graz - Research portal

Go directly to the nagivation.
Go directly to the content.

Navigation/Search

Selected Publication:

SHR Neuro Cancer Cardio Lipid Metab Microb

Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J.
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
J Pediatr Gastroenterol Nutr. 2018; Doi: 10.1097/MPG.0000000000002149
PubMed FullText FullText_MUG

Co-authors Med Uni Graz: Knisely Alexander
Altmetrics:
Dimensions Citations:
Plum Analytics:
Scite (citation analytics):
Abstract:: Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6mo, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.