2 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study
    1
    1. ClingenBaseline 21 Oct 2026
      2

      Patient2: Female, 0.5mo at ERT start, 9.4yo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 20mg/kg/2wk

      CaseNotHPOs:

      NotHPOsFreeText: no infusion associated reactions

      CaseAddInfo: homozygous

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:456368 inferred_gene_hgnc:2188 inferred_gene_source:ClinVar GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9912-y
  3. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    1
    1. ClingenBaseline 21 Oct 2026
      P10a

      Patient10: Female, 75yo

      CasePresentingHPOs: HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 5yr follow-up MRI, 40yr disease duration, ERT lasted 103mo

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

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

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (del exon 18)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:2188 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6