| Autor: |
Yin-Hsiu Chien, Wen-Hui Tsai, Chaw-Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu-Jen Tsai, Siew-Lee Wong, Ni-Chung Lee, Wuh-Liang Hwu |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2020.100591 |
| Popis: |
Objective: Enzyme replacement therapy (ERT), the only approved therapy for infantile-onset Pompe disease (IOPD), had heterogeneous clinical effects due to factors such as severity, age at first treatment, dosage, and dosing regimens. We report the clinical and biochemical outcomes of a cohort of IOPD patients identified through newborn screening, and evaluating the dosage effect. Study design: A retrospective observational study was designed to describe the long-term clinical and biochemical outcomes of a uniform cohort of IOPD patients who have been treated with high-dosage of ERT. Results: Twenty-eight patients received alglucosidase alpha at either the labeled dosage followed by a high dosage (n = 23) or a high dosage exclusively (n = 5). At a median age of 8.3 years (0.8–17.3), 15 patients were walkers, 8 were weak walkers, and 5 were nonwalkers. The three groups exhibited a significant difference in the age of gross motor decline (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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