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
2010-10-01
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| Series: | Turkish Journal of Hematology |
| Subjects: | |
| Online Access: | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-73644 |
| _version_ | 1828021617746247680 |
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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 | 2024-04-10T11:55:51Z |
| format | Article |
| id | doaj.art-63e0e85df55e44ce915d52a3f665a7b2 |
| institution | Directory Open Access Journal |
| issn | 1308-5263 |
| language | English |
| last_indexed | 2024-04-10T11:55:51Z |
| publishDate | 2010-10-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Turkish Journal of Hematology |
| spelling | doaj.art-63e0e85df55e44ce915d52a3f665a7b22023-02-15T16:16:48ZengGalenos Publishing HouseTurkish Journal of Hematology1308-52632010-10-0127319019510.5152/tjh.2010.27TJH-73644Enzyme replacement therapy in type 1 Gaucher disease and a review of the literatureGökhan Kabaçam0Gülşah Kabaçam1Pervin Topçuoğlu2Işınsu Kuzu3Mutlu Arat4Department Of Gastroenterology, Ankara University Faculty Of Medicine, Ankara, TurkeyRadiology Clinic, Ankara Dışkapı Children Education And Research Hospital, Ankara, TurkeyDepartment Of Hematology, Ankara University Faculty Of Medicine, Ankara, TurkeyDepartment Of Pathology, Ankara University Faculty Of Medicine, Ankara, TurkeyDepartment Of Hematology, Ankara University Faculty Of Medicine, Ankara, TurkeyGaucher 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.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&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 | https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-73644 |
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