Cobalamin C defect presenting as severe neonatal hyperammonemia

European Journal of Pediatrics

Volumn 170, Issue 7, 2011, Pages 887-890

  Martinelli, Diego ^a   Dotta, Andrea ^a   Massella, Laura ^a   Picca, Stefano ^a   Di Pede, Alessandra ^a   Boenzi, Sara ^a   Aiello, Chiara ^a   Dionisi Vici, Carlo ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Adenosylcobalamin; Cobalamin C defect; Homocysteine; Methylcobalamin; Methylmalonic aciduria; Peritoneal dialysis

Indexed keywords

AMMONIA; ANTIBIOTIC AGENT; ARGININE; BENZOIC ACID; BETAINE; CARGLUMIC ACID; CARNITINE; COBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; METHYLMALONIC ACID; MUTASE; PROTEIN MMACHC; UNCLASSIFIED DRUG;

AMMONIA BLOOD LEVEL; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; COBALAMIN C DEFECT; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GENETIC ANALYSIS; HOMOCYSTINURIA; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LABORATORY TEST; METHYLMALONIC ACIDURIA; NEWBORN; PERITONEAL DIALYSIS; PRIORITY JOURNAL;

AMINO ACID METABOLISM, INBORN ERRORS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HOMOCYSTINURIA; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN;

EID: 79959750832     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-010-1371-8     Document Type: Article

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