De novo mutations in polg presenting with acute liver failure or encephalopathy

Journal of Pediatric Gastroenterology and Nutrition

Volumn 49, Issue 1, 2009, Pages 126-129

  Lutz, Richard E ^a   Dimmock, David ^e   Schmitt, Eric S ^e   Zhang, Qing ^e   Tang, Lin Ya ^e   Reyes, Christine ^c   Truemper, Edward ^d   Mccomb, Rodney D ^b   Hernandez, Angel ^f   Basinger, Alice ^g   Wong, Lee Jun C ^e  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c Department of Pathology ^*

^d Childrens Hospital   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f Children's Medical Center   (United States)

^g Division of Metabolic Genetics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALANINE AMINOTRANSFERASE; AMINO ACID; AMMONIA; ASPARTATE AMINOTRANSFERASE; BILIRUBIN GLUCURONIDE; CARBOXYLIC ACID; CREATINE KINASE; DIAZEPAM; DNA POLYMERASE; FOSPHENYTOIN SODIUM; GLUTAMINE; LACTIC ACID; LORAZEPAM; MIDAZOLAM; PHENOBARBITAL; POLYMERASE GAMMA; PYRUVIC ACID; TYROSINE; UNCLASSIFIED DRUG; VALPROIC ACID;

AMINO ACID BLOOD LEVEL; ANAMNESIS; ARTICLE; BRAIN DISEASE; CASE REPORT; FEMALE; GENE MUTATION; HUMAN; INFANT; LACTATE BLOOD LEVEL; LIVER BIOPSY; LIVER FAILURE; MALE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TONIC CLONIC SEIZURE;

BRAIN DISEASES; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; LIVER; LIVER FAILURE, ACUTE; MALE; MUTATION; SYNDROME; VIRUS DISEASES;

EID: 67651062419     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817d9cad     Document Type: Article

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