Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure

Journal of Pediatrics

Volumn 164, Issue 3, 2014, Pages

  Al Hussaini, Abdulrahman ^a   Faqeih, Eissa ^a   El Hattab, Ayman W ^a   Alfadhel, Majid ^b   Asery, Ali ^a   Alsaleem, Badr ^a   Bakhsh, Eman ^a   Ali, Ashraf ^b   Alasmari, Ali ^a   Lone, Khurram ^a   Nahari, Ahmed ^a   Eyaid, Wafaa ^b   Al Balwi, Mohammed ^b   Craig, Kate ^c   Butterworth, Anna ^c   He, Langping ^c   Taylor, Robert W ^c  

^a KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; DEOXYGUANOSINE KINASE; GENOMIC DNA; MITOCHONDRIAL DNA;

ARTICLE; BILE ACID SYNTHESIS; BLOOD; CHILD; CHOLESTASIS; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA ISOLATION; FEMALE; GALACTOSEMIA; GENE MUTATION; HEMOCHROMATOSIS; HEMOPHAGOCYTIC SYNDROME; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IDIOPATHIC DISEASE; LEUKOCYTE; LIVER; LIVER FAILURE; MALE; METABOLIC DISORDER; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE; NEWBORN DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKELETAL MUSCLE; TERTIARY CARE CENTER; TYROSINEMIA;

ACIDOSIS, LACTIC; ALANINE TRANSAMINASE; ALPHA-FETOPROTEINS; ASPARTATE AMINOTRANSFERASES; BILE; CHOLESTASIS; DNA, MITOCHONDRIAL; FEMALE; GAMMA-GLUTAMYLTRANSFERASE; HUMANS; INFANT; INFANT, NEWBORN; LEUKOCYTES; LIVER; LIVER FAILURE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR);

EID: 84894340112     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2013.10.082     Document Type: Article

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