title: Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
authors.affiliation: Pediatric GI/Nutrition, Long Island College Hospital, Brooklyn, New York 11201, USA. srabinmd@optonline.net
authors.forename: Simon S
authors.initials: SS
authors.lastname: Rabinowitz
authors.forename: Daniel
authors.initials: D
authors.lastname: Gelfond
authors.forename: Chun-Kuo
authors.initials: CK
authors.lastname: Chen
authors.forename: Elizabeth S
authors.initials: ES
authors.lastname: Gloster
authors.forename: Peter F
authors.initials: PF
authors.lastname: Whitington
authors.forename: Sabrina
authors.initials: S
authors.lastname: Sacconi
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000235:genetics*; D008297:Male; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase