Rapid diagnosis, treatment and follow-up of pedigrees with late-onset methylmalonic aciduria and homocystinuria cobalamin C type
Objective To summarize phenotype, treatment principles and prognosis of 4 patients from 2 pedigrees with late-onset methylmalonic aciduria (MMA) and homocystinuria cobalamin C (cblC) type, so as to explore the pathophysiological mechanism of this disease. Methods and Results Exome sequencing was app...
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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Tianjin Huanhu Hospital
2019-06-01
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| Серія: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Предмети: | |
| Онлайн доступ: | http://cjcnn.org/index.php/cjcnn/article/view/1968 |
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