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Updated: Apr 25, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study

Taraka R Donti, James C DiPerna, Madhuri R Hegde

    Molecular Genetics and Metabolism Reports
    |April 24, 2026
    PubMed
    Abstract

    Keywords:
    Inborn errors of metabolism (IEM)Lysosomal storage disorders (LSD)Multiple sulfatase deficiency (MSD)Newborn screeningQuality checkSulfatase-modifying factor-1 (SUMF1)

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