Newborn screening for glutaric aciduria type I in Victoria: Treatment and outcome

Molecular Genetics and Metabolism

Volumn 94, Issue 3, 2008, Pages 287-291

  Boneh, Avihu ^a,b,c   Beauchamp, Miriam ^a,b,c   Humphrey, Maureen ^a,b   Watkins, Jemma ^a,b   Peters, Heidi ^a,b,c   Yaplito Lee, Joy ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Dystonia; Glutaric aciduria type I; Low protein diet; Neuropsychological assessment; Newborn screening; Speech abnormality

Indexed keywords

CARNITINE; GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ARTICLE; AUSTRALIA; AUTOSOMAL RECESSIVE DISORDER; CHILD DEVELOPMENT; COMPUTER ASSISTED TOMOGRAPHY; DIET SUPPLEMENTATION; DYSTONIA; FEMALE; GLUTARIC ACIDURIA TYPE 1; HEALTH PROGRAM; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC EXAMINATION; NEUROLOGICAL COMPLICATION; NEUROPSYCHOLOGICAL TEST; NEWBORN; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN RESTRICTION; PSYCHOLOGIC ASSESSMENT; SPEECH DISORDER; TANDEM MASS SPECTROMETRY; URINALYSIS;

AUSTRALIA; FEMALE; GLUTARATES; HUMANS; INCIDENCE; INFANT, NEWBORN; MALE; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEONATAL SCREENING; NEUROPSYCHOLOGICAL TESTS; RETROSPECTIVE STUDIES; TREATMENT OUTCOME;

EID: 44649092555     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.03.005     Document Type: Article

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