Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Molecular Genetics and Metabolism

Volumn 103, Issue 3, 2011, Pages 262-267

  Hanchard, Neil A ^a   Shchelochkov, Oleg A ^b   Roy, Angshumoy ^a   Wiszniewska, Joanna ^a   Wang, Jing ^a   Popek, Edwina J ^a   Karpen, Saul ^a   Wong, Lee Jun C ^a   Scaglia, Fernando ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

DGUOK; Mitochondria; MtDNA; MtDNA depletion syndrome; Neonatal hemochromatosis; Neonatal liver failure

Indexed keywords

ACETYLCYSTEINE; ALANINE; ALANINE AMINOTRANSFERASE; ALPHA FETOPROTEIN; ASPARTATE AMINOTRANSFERASE; BILIRUBIN; BILIRUBIN GLUCURONIDE; DEOXYGUANOSINE KINASE; FERRITIN; IMMUNOGLOBULIN G; LACTIC ACID; LYSINE; METHIONINE; MITOCHONDRIAL DNA; PYRUVIC ACID; SUCCINYLACETONE; TYROSINE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BILIRUBIN BLOOD LEVEL; BLOOD CLOTTING DISORDER; CASE REPORT; CHOLESTASIS; ENZYME DEFICIENCY; FEMALE; FERRITIN BLOOD LEVEL; HEMOCHROMATOSIS; HUMAN; HYPOALBUMINEMIA; HYPOGLYCEMIA; LACTATE BLOOD LEVEL; LIVER DISEASE; LIVER DYSFUNCTION; LIVER FAILURE; LIVER HEMOSIDEROSIS; MITOCHONDRIAL DNA DEPLETION SYNDROME; MITOCHONDRIAL RESPIRATION; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARTIAL THROMBOPLASTIN TIME; PATHOGENESIS; PRIORITY JOURNAL; THROMBOCYTOPENIA; TYROSINEMIA;

AUTOPSY; DNA, MITOCHONDRIAL; FATAL OUTCOME; FEMALE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIVER; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 79958032358     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.03.006     Document Type: Article

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