| Autor: |
Altınay Göksel Karatepe, Rezzan Günaydın, Taciser Kaya, Nesrin Şen, Gülriz Özbek, Özgür Sipahi Esen |
| Jazyk: |
English<br />Turkish |
| Rok vydání: |
2005 |
| Předmět: |
|
| Zdroj: |
Türk Osteoporoz Dergisi, Vol 11, Iss 3, Pp 127-131 (2005) |
| Druh dokumentu: |
article |
| ISSN: |
2147-2653 |
| Popis: |
Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of glucocerebroside in the macrophage lysosomes. It is classified in three types, according to the presence of central nervous system involvement (type 2 and 3) or not (type 1). In the majority of patients there are hepatosplenomegaly, anemia and thrombocytopenia. Skeletal involvement is also important and it is the most disabling manifestation. In this case report, there is presented a case of Gauchers disease with multiple skeletal involvement and the literature is reviewed. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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