Substrate reduction therapy in the infantile form of Tay-Sachs disease.
Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two...
| Main Authors: | , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2006
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| _version_ | 1797065527606116352 |
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| author | Bembi, B Marchetti, F Guerci, V Ciana, G Addobbati, R Grasso, D Barone, R Cariati, R Fernandez-Guillen, L Butters, T Pittis, MG |
| author_facet | Bembi, B Marchetti, F Guerci, V Ciana, G Addobbati, R Grasso, D Barone, R Cariati, R Fernandez-Guillen, L Butters, T Pittis, MG |
| author_sort | Bembi, B |
| collection | OXFORD |
| description | Substrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed. |
| first_indexed | 2024-03-06T21:29:53Z |
| format | Journal article |
| id | oxford-uuid:44538236-c911-4bd0-a295-f4ea601063c5 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:29:53Z |
| publishDate | 2006 |
| record_format | dspace |
| spelling | oxford-uuid:44538236-c911-4bd0-a295-f4ea601063c52022-03-26T15:00:57ZSubstrate reduction therapy in the infantile form of Tay-Sachs disease.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:44538236-c911-4bd0-a295-f4ea601063c5EnglishSymplectic Elements at Oxford2006Bembi, BMarchetti, FGuerci, VCiana, GAddobbati, RGrasso, DBarone, RCariati, RFernandez-Guillen, LButters, TPittis, MGSubstrate reduction therapy (SRT) with miglustat has been proposed for treatment of some lysosomal storage disorders. Based on the positive experience in Gaucher disease and experimental data in Tay-Sachs (TSD) and Sandhoff animal models, the authors investigated the clinical efficacy of SRT in two patients with infantile TSD. SRT could not arrest the patients' neurologic deterioration. However, a significant drug concentration in CSF as well as macrocephaly prevention were observed. |
| spellingShingle | Bembi, B Marchetti, F Guerci, V Ciana, G Addobbati, R Grasso, D Barone, R Cariati, R Fernandez-Guillen, L Butters, T Pittis, MG Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title | Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title_full | Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title_fullStr | Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title_full_unstemmed | Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title_short | Substrate reduction therapy in the infantile form of Tay-Sachs disease. |
| title_sort | substrate reduction therapy in the infantile form of tay sachs disease |
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