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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 22 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 5

      Variant1: NM_000152.3:c.1396del

      CAID: CA658795256, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA658795256

      gnomAD: n/a

      Variant2: NM_000152.3:c.1705dup

      CAID: CA658795264, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3%3Ac.1705dup

      gnomAD: n/a

      Individual CaseInfo Variant CA658795256 CA658795264 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    nature.com/articles/gim20182