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This Article:

Dietrich Matern, Miao He, Susan A. Berry, Piero Rinaldo, Chester B. Whitley, Pia P. Madsen, Sandra C. van Calcar, Richard C. Lussky, Brage S. Andresen, Jon A. Wolff, and Jerry Vockley
Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry
Pediatrics 2003 112: 74-78.

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Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
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Making the case for objective performance metrics in newborn screening by tandem mass spectrometry
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Recent developments and new applications of tandem mass spectrometry in newborn screening
Piero Rinaldo, Silvia Tortorelli, and Dietrich Matern
Current Opinion in Pediatrics (2004) 16: 427
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A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening
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