Inborn errors of metabolism: An update on epidemiology and on neonatal-onset hyperammonemia

Acta Paediatrica, International Journal of Paediatrics, Supplement

Volumn 93, Issue 445, 2004, Pages 18-21

  Deodato, F ^a   Boenzi, S ^a   Rizzo, C ^a   Abeni, D ^b   Caviglia, S ^a   Picca, S ^a   Bartuli, A ^a   Dionisi Vici, C ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

Cognitive development; Epidemiology; Inborn errors of metabolism; Neonatal hyperammonemia

Indexed keywords

ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; BIOTIN; CARNITINE; HYDROXOCOBALAMIN; INSULIN;

ADRENOLEUKODYSTROPHY; BIOCHEMISTRY; CALORIC RESTRICTION; CHILDHOOD MORTALITY; CLINICAL FEATURE; COGNITION; CONFERENCE PAPER; COST BENEFIT ANALYSIS; DIALYSIS; DIETARY INTAKE; DISEASE COURSE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EPIDEMIOLOGICAL DATA; GAUCHER DISEASE; GLYCOGEN STORAGE DISEASE TYPE 1; HUMAN; HUNTER SYNDROME; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; ITALY; LYSOSOME STORAGE DISEASE; MENTAL DEFICIENCY; METHYLMALONIC ACIDURIA; MORBIDITY; NEUROLOGIC DISEASE; NEWBORN; NEWBORN SCREENING; ONSET AGE; PEDIATRICS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TANDEM MASS SPECTROMETRY; TECHNIQUE; X CHROMOSOME LINKED DISORDER;

EID: 2342633725     PISSN: 08035326     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2004.tb03050.x     Document Type: Conference Paper

References (5)

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5. Picca S, Dionisi-Vici C, Abeni D, Pastore A, Rizzo C, Orzalesi M, et al. Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators. Pediatr Nephrol 2001; 16: 862-7