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    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
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    1. ClingenBaseline 24 Oct 2026
      28/M

      Patient28: Male

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001270, HP:0002546, HP:0000365, HP:0001371

      HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = 1:3200, infusion associated reaction, tracheostomy, heart normalization

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: variants in trans, symptom onset at 2yo, diagnosis at 4yo, ERT at 9yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2237G>A (p.Trp746Ter)

      ClinVar: 280063, https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: 0.000003988, http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      Variant2: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, http://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Individual CaseInfo Variant ClinVarID:280063 ClinVar:279811 inferred_gene_hgnc:4116 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0