31
Patient31: <1 year onset
CasePresentingHPOs: HP:0002240 (Hepatomegaly)
CaseAddInfo: LOPD
4 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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7
Patient7: Female, 1 year onset
CasePresentingHPOs: HP:0002240 (Hepatomegaly)
HPOsFreeText: GAA activity 1% from leukocyte
CaseNotHPOs: HP:0002098, HP:0001324, HP:0001640 (Respiratory distress, Muscle weakness, Cardiomegaly)
NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed
CaseAddInfo: LOPD
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8
Patient8: Female, 8 year onset
CasePresentingHPOs: HP:0001324 (Muscle Weakness)
HPOsFreeText: GAA activity 3.2% from dried blood spot
CaseNotHPOs: HP:0002098, HP:0001640, HP:0002240 (Respiratory distress, Cardiomegaly, Hepatomegaly)
NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed
CaseAddInfo: LOPD
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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3
Case3: Female, 22 years diagnosis, 19 years onset
CasePresentingHPOs: HP:0009073, HP:0003198 (Progressive proximal muscle weakness, Myopathy)
HPOsFreeText: Electromyography showed myogenic damage, Vacuolar myopathy, Serum CK is 73.5 U/L
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