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Document type:
journal article 
Author(s):
Freisinger, P; Fütterer, N; Lankes, E; Gempel, K; Berger, TM; Spalinger, J; Hoerbe, A; Schwantes, C; Lindner, M; Santer, R; Burdelski, M; Schaefer, H; Setzer, B; Walker, UA; Horváth, R 
Title:
Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. 
Abstract:
BACKGROUND: Autosomal recessive mutations in deoxyguanosine kinase (DGUOK) have been identified in the hepatocerebral form of mitochondrial DNA (mtDNA) depletion syndrome. OBJECTIVES: To describe the clinical spectrum of DGUOK-related mtDNA depletion syndrome in 6 children and to summarize the literature. RESULTS: We identified pathogenic mutations in DGUOK in 6 children with the hepatocerebral form of mtDNA depletion syndrome. We describe the clinical, neuroradiologic, histologic, and genetic f...    »
 
Journal title abbreviation:
Arch Neurol 
Year:
2006 
Journal volume:
63 
Journal issue:
Pages contribution:
1129-34 
Language:
eng 
Print-ISSN:
0003-9942 
TUM Institution:
Kinderklinik und Poliklinik