5 Matching Annotations
  1. Oct 2026
  2. air.unimi.it air.unimi.it
    Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 24 Oct 2026
      12

      Case12: Female, 48 years onset, 58 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 59, GAA Activity at ~17 pmol/min/mg before ERT and ~19 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

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

      ClinVar: 4027 https://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.1561G>A (p.Glu521Lys)

      ClinVar: 4022 https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: South Asian 3.266e-5, Overall 3.980e-6 http://gnomad.broadinstitute.org/variant/17-78084749-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    air.unimi.it/retrieve/handle/2434/514084/879921/Ripolone_et_al-2017-Neuropathology_and_Applied_Neurobiology AIR.pdf
  3. journals.plos.org journals.plos.org
    Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy
    1
    1. ClingenBaseline 23 Oct 2026
      Detailed characteristics of these patients

      Patient9: male, 10yo, juvenile onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 14.7 / 15.2 / 15.8, WGMS = 0 / 0 / 0

      CaseNotHPOs: HP:0002355

      NotHPOsFreeText: did not require respiratory support

      CaseAddInfo:

      CasePMIDs:

      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: NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 0.000003980, http://gnomad.broadinstitute.org/variant/17-78084749-G-A

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    journals.plos.org/plosone/article
  4. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    2
    1. ClingenBaseline 21 Oct 2026
      17

      Patient17: 65yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002870, HP:0020038, HP:0002637

      HPOsFreeText: GAA = 6.8%, smoker, BMI = 27.1, right ventricular trigone retraction due to ischemia

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 22yr disease duration, variants in cis

      CasePMIDs:

      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: NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 8.262e-06, http://exac.broadinstitute.org/variant/17-78084749-G-A

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 21 Oct 2026
      20

      Patient20: 60yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0000822, HP:0002870, HP:0020038

      HPOsFreeText: GAA = 11%, BMI = 23.2, subcortical white matter lacunes

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 5yr disease duration, variants in cis

      CasePMIDs:

      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: NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 8.262e-06, http://exac.broadinstitute.org/variant/17-78084749-G-A

      Individual CaseInfo Variant EnzymeActivity ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x
  5. jnnp.bmj.com jnnp.bmj.com
    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
    1
    1. ClingenBaseline 21 Oct 2026
      6

      Case#: Patient 6, female

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 55yo at onset, 59yo at diagnosis

      VariantAllele1: 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

      VariantAllele2: NM_000152.4(GAA):c.1561G>A (p.Glu521Lys)

      ClinVar: 4022, https://www.ncbi.nlm.nih.gov/clinvar/variation/4022/

      gnomAD: 8.262e-06, http://exac.broadinstitute.org/variant/17-78084749-G-A

      Individual CaseInfo ClinVarID:4027 ClinVarID:4022 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    jnnp.bmj.com/content/87/1/5