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    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
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    1. ClingenBaseline 23 Oct 2026

      CaseOPOPD-39: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.56 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.841C>T (p.Arg281Trp)

      ClinVar: 283894 https://www.ncbi.nlm.nih.gov/clinvar/variation/283894/

      gnomAD: European (Non-Finnish) 4.051e-4, Overall 2.051e-4 http://gnomad.broadinstitute.org/variant/17-78081504-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:283894 ClinVarID:92467 inferred_gene_hgnc:4318 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/