2018•Molecular Genetics and MetabolismOpen access

Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers

Xinying Hong, Arun Babu Kumar, C. Ronald Scott, Michael H. Gelb

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Key concepts: Galactosemia, Newborn screening, Biotinidase deficiency, Multiplex, Chemistry, Tandem mass spectrometry, Methylmalonic acidemia, Dried blood spot

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Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers — Research Paper | ScholarLens