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Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
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| Measure | Description | Time Frame |
|---|---|---|
| all cause morbidities | 10 years |
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Inclusion Criteria:
Confirm diagnosis with Pompe disease, is or is preparing receiving enzyme replacement therapy
Exclusion Criteria:
No
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Patients of Pompe disease who under enzyme replacement therapy
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Yin-Hsiu Chien | Contact | +886223123456 | 71937 | chienyh@ntu.edu.tw |
| Name | Affiliation | Role |
|---|---|---|
| Yin-Hsiu Chien | National Taiwan University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| National Taiwan University Hospital | Recruiting | Taipei | 100 | Taiwan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36399131 | Derived | Hsu YK, Chien YH, Shinn-Forng Peng S, Hwu WL, Lee WT, Lee NC, Po-Yu Huang E, Weng WC. Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease. Genet Med. 2023 Jan;25(1):27-36. doi: 10.1016/j.gim.2022.10.005. Epub 2022 Nov 18. |
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |