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    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
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    1. ClingenBaseline 24 Oct 2026
      Ten patients received concomitant immunomodulation (detailed in Supplementary Table S4); six were genotype-predicted as CRIM-negative, three were CRIM-positive, and one lacked genotype data.

      Patient 7:

      Variant1: NM_000152.4(GAA):c.1933G>C (p.Asp645His)

      ClinVar: 189013, https://www.ncbi.nlm.nih.gov/clinvar/variation/189013/

      gnomAD: 0.000008250, http://gnomad.broadinstitute.org/variant/17-78086719-G-C

      Variant2: NM_000152.4(GAA):c.2662G>T (p.Glu888Ter)

      ClinVar: 578595, https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: 0.00001998, http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      Individual CaseInfo Variant ClinVarID:189013 ClinVarID:578595 inferred_gene_hgnc:21024 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim20182