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Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
We present six novel patients affected by lipid storage myopathy (LSM) presenting mutations in the ETFDH gene. Although the diagnosis of multiple acyl-coenzyme-A dehydrogenase deficiency (MADD) in adult life is difficult, it is rewarding because of the possibility of treating patients with carnitine...
Guardat en:
| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5874208/ https://ncbi.nlm.nih.gov/pubmed/28456887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2017_27 |
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