Hepatocerebral mitochondrial dna depletion syndrome: clinical and morphologic features of a nuclear gene mutation

Journal of Pediatric Gastroenterology and Nutrition

Volumn 38, Issue 2, 2004, Pages 216-220

  Rabinowitz, Simon S ^a   Gelfond, Daniel ^a   Chen, Chun Kuo ^a   Gloster, Elizabeth S ^a   Whitington, Peter F ^a   Sacconi, Sabrina ^a   Salviati, Leonardo ^a   DiMauro, Salvatore ^a  

^a LONG ISLAND COLLEGE HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; MITOCHONDRIAL DNA; PHOSPHOTRANSFERASE;

ARTICLE; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FATALITY; FEMALE; GENETICS; GENOTYPE; HUMAN; LIVER FAILURE; MALE; MUTATION; NEWBORN; PEDIGREE; PHENOTYPE; SYNDROME;

DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; LIVER FAILURE; MALE; MITOCHONDRIAL DISEASES; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SYNDROME;

EID: 6044243733     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/00005176-200402000-00022     Document Type: Review

References (0)