लोड हो रहा है...
The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations
The inborn errors of metabolism associated with 3-methylglutaconic aciduria are a diverse group of disorders characterized by the excretion of 3-methylglutaconic and 3-methylglutaric acids in the urine. Mutations in several genes have been identified in association with 3-methylglutaconic aciduria....
में बचाया:
| में प्रकाशित: | JIMD Rep |
|---|---|
| मुख्य लेखकों: | , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer Berlin Heidelberg
2014
|
| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4221303/ https://ncbi.nlm.nih.gov/pubmed/24997715 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_322 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|