Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | JIMD Rep |
|---|---|
| Prif Awduron: | , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Springer Berlin Heidelberg
2017
|
| Pynciau: | |
| Mynediad Ar-lein: | 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 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|