التفاصيل البيبلوغرافية
| العنوان: |
Integrated management of an adult patient with Mucopolysaccharidosis type IVA: a case report with a six-year follow-up |
| المؤلفون: |
Anita Vergatti, Veronica Abate, Matteo Della Monica, Gianpaolo De Filippo, Domenico Rendina, Antonio Barbato |
| المصدر: |
European Journal of Case Reports in Internal Medicine (2023) |
| بيانات النشر: |
SMC MEDIA SRL, 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Medicine |
| مصطلحات موضوعية: |
mucopolysaccharidosis iva, zoledronic acid, cholecalciferol, enzyme replacement therapy, diet, Medicine |
| الوصف: |
Mucopolysaccharidosis type IVA (MPS-IVA) is a rare lysosomal storage disease caused by N-acetylglucosamine-6-sulfate-sulfatase enzyme deficiency. MPS-IVA patients show severe extra-skeletal and skeletal manifestations, featured by bone pain and deformities, frailty fractures and early onset osteoporosis. The enzyme replacement therapy (ERT) with elosulfase alpha stabilizes the MPS-IVA extra-skeletal manifestations but does not significantly improve MPS-IVA skeletal manifestations. We administered an integrated therapy to an MPS-IVA 41-year-old male patient, composed of zoledronic acid, cholecalciferol and a normocalcemic (calcium intake >1 g/day), hyposodic (sodium intake |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
2284-2594 |
| Relation: |
https://www.ejcrim.com/index.php/EJCRIM/article/view/4113; https://doaj.org/toc/2284-2594 |
| DOI: |
10.12890/2023_004113 |
| URL الوصول: |
https://doaj.org/article/180c4c922c0a48a58242c0230ce96401 |
| رقم الانضمام: |
edsdoj.180c4c922c0a48a58242c0230ce96401 |
| قاعدة البيانات: |
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