Загрузка...
A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macro...
Сохранить в:
| Главные авторы: | , , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Hindawi Publishing Corporation
2014
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3921946/ https://ncbi.nlm.nih.gov/pubmed/24587932 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/256356 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|