Neonatal liver failure due to deoxyguanosine kinase deficiency

BMJ Case Reports

Volumn , Issue , 2012, Pages

  Nobre, Susana ^a   Grazina, Manuela ^b,c   Silva, Francisco ^a   Pinto, Carla ^a   Gonçalves, Isabel ^a   Diogo, Luísa ^a  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

^c UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

DEOXYGUANOSINE KINASE; FERRITIN; IRON; MITOCHONDRIAL DNA;

ARTICLE; CASE REPORT; CHOLESTASIS; CONSANGUINITY; DEATH; DEOXYGUANOSINE KINASE DEFICIENCY; ENZYME DEFICIENCY; FATTY LIVER; FERRITIN BLOOD LEVEL; HEMOCHROMATOSIS; HUMAN; HYPERLACTATEMIA; HYPOGLYCEMIA; LIVER; LIVER CIRRHOSIS; LIVER FAILURE; LIVER FIBROSIS; LIVER TRANSPLANTATION; MALE; NEONATAL LIVER FAILURE; NEWBORN; NYSTAGMUS; PRIORITY JOURNAL;

EID: 84862096153     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.12.2011.5317     Document Type: Article

References (10)

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2. Slama A, Giurgea I, Debrey D, et al. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement. Mol Genet Metab 2005;86:462-5. (Pubitemid 41796488)
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