Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease

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  2017

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• Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

  2016cited by this paper
• Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

  2016influential reference
• Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

  2013cited by this paper
• Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

  2012cited by this paper
• Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

  2010cited by this paper
• Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.

  2008cited by this paper
• Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

  2008cited by this paper
• Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

  2008cited by this paper
• Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease.

  2004cited by this paper
• The Metabolic and Molecular Bases of Inherited Disease

  2001cited by this paper
• Glycogen storage disease.

  1948cited by this paper

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