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The utility of phenomics in diagnosis of inherited metabolic disorders
Inherited metabolic disorders (IMDs) are debilitating inherited diseases, with phenotypic, biochemical and genetic heterogeneity, frequently leading to prolonged diagnostic odysseys. Mitochondrial disorders represent one of the most severe classes of IMDs, wherein defects in >350 genes lead to mu...
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| Publicado no: | Clin Med (Lond) |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Royal College of Physicians
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6399633/ https://ncbi.nlm.nih.gov/pubmed/30651242 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7861/clinmedicine.19-1-30 |
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