Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
Rabinowitz
Simon S
SS
Pediatric GI/Nutrition, Long Island College Hospital, Brooklyn, New York 11201, USA. srabinmd@optonline.net
Gelfond
Daniel
D
Chen
Chun-Kuo
CK
Gloster
Elizabeth S
ES
Whitington
Peter F
PF
Sacconi
Sabrina
S
Salviati
Leonardo
L
DiMauro
Salvatore
S
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
D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase