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    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
    1
    1. ClingenBaseline 22 Oct 2026
      LOPD-19

      CaseLOPD-19: 2 weeks diagnosis

      HPOsFreeText: GAA activity 2.7 (nmol · h−1 · mg−1), Mean percentage of normal 3.8%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1115A>T (p.His372Leu)

      ClinVar: 370483 https://www.ncbi.nlm.nih.gov/clinvar/variation/370483/

      gnomAD: Not in gnomAD

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:370483 inferred_gene_hgnc:7526 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/