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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 8 - homozygous

      Variant: NM_000152.3:c.1844G>A

      CAID: CA401369598, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369598

      gnomAD: 0.000004098, http://gnomad.broadinstitute.org/variant/17-78086466-G-A

      Individual CaseInfo Variant CA401369598 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    nature.com/articles/gim20182