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Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II
BACKGROUND: Glutaric aciduria type II (GA II) is an autosomal recessive disorder affecting fatty acid and amino acid metabolism. The late-onset form of GA II disorder is almost exclusively associated with mutations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Till now, the clini...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Lipids Health Dis |
|---|---|
| Prif Awduron: | , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2017
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5615764/ https://ncbi.nlm.nih.gov/pubmed/28950901 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12944-017-0576-5 |
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