The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

Annual Review of Genomics and Human Genetics

Volumn 3, Issue , 2002, Pages 17-45

  Chace, Donald H ^a   Kalas, Theodore A ^a   Naylor, Edwin W ^a  

^a Pediatrix Screening   (United States)

Author keywords

Acylcarnitines; Amino acids; MCAD; Newborn screening; PKU

Indexed keywords

ACYLCARNITINE; AMINO ACID; CITRULLINE; GLUTARIC ACID; ISOVALERIC ACID; META TYROSINE; METHYLMALONIC ACID; PROPIONIC ACID; VERY LONG CHAIN FATTY ACID;

AMINO ACID ANALYSIS; AMINO ACID DEFICIENCY; CITRULLINEMIA; CLINICAL FEATURE; CLINICAL TRIAL; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; FATTY ACID ANALYSIS; FATTY ACID OXIDATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HOMOCYSTINURIA; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MAPLE SYRUP URINE DISEASE; MASS SPECTROMETRY; METHYLMALONIC ACIDEMIA; NEWBORN; NEWBORN SCREENING; PHENYLKETONURIA; PROPIONIC ACIDEMIA; PROTEIN BLOOD LEVEL; PROTEIN TRANSPORT; RELIABILITY; REVIEW; TANDEM MASS SPECTROMETRY; TYROSINEMIA;

AMINO ACID METABOLISM, INBORN ERRORS; GENETICS; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; NEONATAL SCREENING;

ACER;

EID: 0036405455     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.3.022502.103213     Document Type: Review

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