A New Case of Schindler Disease
Lysosomal storage disorders (LSDs) are a group of genetic disorders caused by mutations in genes encoding enzymes involved in lysosomal function. Schindler disease is an autosomal recessive, inherited LSD caused by defective or non-existent activity of the enzyme α-N-acetylgalactosaminidase (α-NAGA)...
Сохранить в:
| Главные авторы: | , , , , , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
SMC MEDIA SRL
2019-10-01
|
| Серии: | European Journal of Case Reports in Internal Medicine |
| Предметы: | |
| Online-ссылка: | https://www.ejcrim.com/index.php/EJCRIM/article/view/1269 |
| Метки: |
Нет меток, Требуется 1-ая метка записи!
|