Alpers syndrome with mutations in POLG: Clinical and investigative features

Pediatric Neurology

Volumn 45, Issue 5, 2011, Pages 311-318

  Hunter, Matthew F ^a,b   Peters, Heidi ^a,b   Salemi, Renato ^b   Thorburn, David ^b   MacKay, Mark T ^c  

^a Victorian Clinical Genetics Service   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; VALPROIC ACID;

ALPERS DISEASE; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; DELTA RHYTHM; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; GENE MUTATION; GROWTH RETARDATION; HUMAN; INFANT; LIVER DYSFUNCTION; LIVER FAILURE; MALE; MEDICAL RECORD REVIEW; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PARALYSIS; PATIENT IDENTIFICATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SPIKE WAVE; TREMOR; VISUAL DISORDER;

CHILD; CHILD, PRESCHOOL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; SEIZURES;

EID: 80054112888     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.07.008     Document Type: Article

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