A Review of Newborn Screening in the Era of Tandem Mass Spectrometry: What's New for the Pediatric Neurologist?

Seminars in Pediatric Neurology

Volumn 15, Issue 3, 2008, Pages 110-116

  Copeland, Sara ^a  

^a UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A; AMINO ACID; CARNITINE; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID; LONG CHAIN FATTY ACID; MEDIUM CHAIN FATTY ACID; SHORT CHAIN FATTY ACID; UREA; VERY LONG CHAIN FATTY ACID;

ACIDEMIA; ACIDURIA; AMINO ACID METABOLISM; ANALYTIC METHOD; ATAXIA; BRAIN EDEMA; CITRULLINEMIA; CLINICAL FEATURE; CLINICAL PRACTICE; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HEARING LOSS; HOMOCYSTINURIA; HUMAN; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INFANT; LABORATORY TEST; MAPLE SYRUP URINE DISEASE; MENTAL DISEASE; MITOCHONDRIAL RESPIRATION; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROPATHY; NEWBORN; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENYLKETONURIA; PRACTICE GUIDELINE; REVIEW; SCREENING TEST; STROKE; TANDEM MASS SPECTROMETRY; TYROSINEMIA; UREA CYCLE;

AMINO ACID METABOLISM, INBORN ERRORS; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 49149099810     PISSN: 10719091     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.spen.2008.05.003     Document Type: Review

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