Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders
Neurometabolic disorders are a group of inborn errors of metabolism where neurological symptoms predominate especially convulsions which are usually resistant to antiepileptic drugs. Other symptoms include poor feeding, vomiting, lethargy, seizures, and loss of consciousness. Because of the nonspeci...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2016-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863015001287 |