LA MUCOPOLYSACCHARIDOSE DE TYPE I: EFFICACITE DU TRAITEMENT ENZYMATIQUE SUBSTITUTIF PAR LA LARONIDASE CHEZ UN CAS
| Main Authors: | Fadoua Bouzid , Zahra Brakez, Ilham Benyamna , Abdelhamid Elmousadik, Bouchaib Jabir and Najat Alif. |
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| Format: | Article Journal |
| Terbitan: |
, 2019
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| Subjects: | |
| Online Access: |
https://zenodo.org/record/3476050 |
Daftar Isi:
- Mucopolusaccharidosis Type I (MPS I) is a lysosomal storage disease due to α-L-iduronidase deficiency. Currently, the disease is treated buy the recombinant human α-L-iduronidase (laronidase). This study evaluates the clinical outcome and quality of life, after two years of traitement by laronidase in a 10 years aged boy, late diagnosed at age 8 with Hurler-Scheie syndrome. The results of the ETS are encouraging. Indeed, this treatment was benefic since it has improved his quality of life; however it have not cure his disease.