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Medical Journal Publications

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots
Clinical Chemistry; 2001

Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death
Clinical Chemistry; June 2001

Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card
Pediatrics; July 2001 issue
American Academy of Pediatrics (AAP)

Detection of Neonatal Carnitine Palmitoyltransferase II Deficiency by Expanded Newborn Screening With Tandem Mass Spectrometry
Pediatrics; June 2001 issue
American Academy of Pediatrics (AAP)

Using Tandem Mass Spectrometry for Metabolic Disease Screening Among Newborns
Morbidity and Mortality Weekly Report: Recommendations and Reports (MMWR); April 13, 2001; Vol. 50, No. RR-3
Center of Disease Control (CDC)

Early Diagnosis of Cystic Fibrosis Through Neonatal Screening Prevents Severe Malnutrition and Improves Long Term Growth
Pediatrics; January 2001; Vol. 107, No.1
American Academy of Pediatrics (AAP)

Newborn Screening:  A Blueprint For the Future 
Pediatrics; August 2000
The definition of comprehensive newborn screening is changing rapidly and state public health programs may not be keeping up, according this report published as a supplement to the August 2000 issue of Pediatrics, the peer-reviewed scientific journal of the American Academy of Pediatrics.

Tandem Mass Spectrometry In Newborn Screening
American College of Medical Genetics Policy Statement; July/August 2000; Vol. 2, No. 4

Newborn Screening Fact Sheet:  The Role of the Laboratory in Newborn Screening Programs
Association of Public Health Laboratories (APHL)

New Technologies In Newborn Screening:  A View From the States
Association of Public Health Laboratories (APHL); March 4, 1998

Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours
Clinical Chemistry; 44:12, 2405-2409 (1998)

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life
The Journal of Pediatrics; January 2001; Volume 132, Number 6 (June 1998)
The results of this study support the view that approximately 5% of all cases of sudden infant death are likely caused by an Fatty-acid Oxidation disorder.

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