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SHR Neuro Krebs Kardio Lipid Stoffw 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 Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
J Pediatr Gastroenterol Nutr. 2019; 68(1):e1-e6-e1-e6 Doi: 10.1097/MPG.0000000000002149 [OPEN ACCESS]
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Co-Autor*innen der Med Uni Graz
Brunner-Krainz Michaela
Knisely Alexander
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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 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.

Find related publications in this database (Keywords)
deletion
exome
founder mutation
hepatocellular carcinoma
infant
neonatal liver failure
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