2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients
    2
    1. ClingenBaseline 23 Oct 2026

      Case38: Male, 75 years report

      HPOsFreeText: ERT not started, 6 Minute Walking Test at 246 meters

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1560C>G (p.Asn520Lys)

      CAID: CA401367200 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1560C%3EG

      gnomAD: Not in gnomAD

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 CA401367200 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 22 Oct 2026

      Case33: Female, 79 years report

      HPOsFreeText: ERT not started, 6 Minute Walking Test at 312 meters, Forced Vital Capacity at 113%

      GenotypingMethod: GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1560C>G (p.Asn520Lys)

      CAID: CA401367200 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1560C%3EG

      gnomAD: Not in gnomAD

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 CA401367200 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5096052/