A novel mutation in the DGUOK gene in a turkish newborn with mitochondrial depletion syndrome

Turkish Journal of Pediatrics

Volumn 53, Issue 1, 2011, Pages 79-82

  Kiliç, Mustafa ^a   Sivri, Hatice Serap ^a   Dursun, Ali ^a   Tokatli, Ayşegül ^a   de Meirleir, Linda ^b   Seneca, Sara ^c   Akçören, Zuhal ^a   Yiǧit, Şule ^a   Topaloǧlu, Haluk ^a   Coşkun, Turgay ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Department of Pediatric Neurology   (Turkey)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

Deoxyguanosine kinase (dGK); DGUOK; Hepatoencephalopathy; Hypoglycemia; Lactic acidosis; Mitochondrial DNA depletion syndrome; MtDNA

Indexed keywords

BICARBONATE; DEOXYGUANOSINE KINASE; DEOXYRIBONUCLEOSIDE; PHYTOMENADIONE; PURINE DERIVATIVE; URSODEOXYCHOLIC ACID; MITOCHONDRIAL DNA; PHOSPHOTRANSFERASE;

ARTICLE; CASE REPORT; CATALYSIS; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; LACTIC ACIDOSIS; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DEPLETION SYNDROME; MUSCLE HYPOTONIA; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; NYSTAGMUS; PHOSPHORYLATION; STOP CODON; TURKEY (REPUBLIC); CONSANGUINITY; FATALITY; GENETICS; HEPATIC ENCEPHALOPATHY; LIVER; PATHOLOGY; RESPIRATORY FAILURE; SYNDROME;

ACIDOSIS, LACTIC; CODON, TERMINATOR; CONSANGUINITY; DNA, MITOCHONDRIAL; FATAL OUTCOME; HEPATIC ENCEPHALOPATHY; HUMANS; INFANT, NEWBORN; LIVER; LIVER FAILURE; MALE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RESPIRATORY INSUFFICIENCY; SYNDROME; TURKEY;

EID: 79958728710     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

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