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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 21 Oct 2026
  
  in Baseline Annotations
  
  (Supplementary Table S3 shows details, IgG trajectories, and outcomes).
  
  Patient 13 - IOPD - homozygous
  
  Variant: NM_000152.3:c.1195-18_2190-20del
  
  CAID: CA913184754, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184754
  
  gnomAD: n/a
  
  Individual CaseInfo Variant CA913184754 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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Variant

CA913184754

CaseInfo

inferred_gene_source:CAID

inferred_gene_hgnc:4065

Individual

GAA variant

Annotators

ClingenBaseline

URL

nature.com/articles/gim20182