Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. He...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2010-09-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-73644 |
| _version_ | 1797907164965109760 |
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| author | Gökhan Kabaçam Gülşah Kabaçam Pervin Topçuoğlu Işınsu Kuzu Mutlu Arat |
| author_facet | Gökhan Kabaçam Gülşah Kabaçam Pervin Topçuoğlu Işınsu Kuzu Mutlu Arat |
| author_sort | Gökhan Kabaçam |
| collection | DOAJ |
| description | Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT. |
| first_indexed | 2024-04-10T10:32:07Z |
| format | Article |
| id | doaj.art-80cb7426bfae4fe0b03c1072e481d26f |
| institution | Directory Open Access Journal |
| issn | 1300-7777 1308-5263 |
| language | English |
| last_indexed | 2024-04-10T10:32:07Z |
| publishDate | 2010-09-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-80cb7426bfae4fe0b03c1072e481d26f2023-02-15T16:21:03ZengGalenos Publishing HouseTurkish Journal of Hematology1300-77771308-52632010-09-012703190195Enzyme replacement therapy in type 1 Gaucher disease and a review of the literatureGökhan KabaçamGülşah KabaçamPervin TopçuoğluIşınsu KuzuMutlu AratGaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT.http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-73644Gaucher diseaseglucosylceramidasetreatment |
| spellingShingle | Gökhan Kabaçam Gülşah Kabaçam Pervin Topçuoğlu Işınsu Kuzu Mutlu Arat Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature Turkish Journal of Hematology Gaucher disease glucosylceramidase treatment |
| title | Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature |
| title_full | Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature |
| title_fullStr | Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature |
| title_full_unstemmed | Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature |
| title_short | Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature |
| title_sort | enzyme replacement therapy in type 1 gaucher disease and a review of the literature |
| topic | Gaucher disease glucosylceramidase treatment |
| url | http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-73644 |
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