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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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Vydáno v:Clin Med (Lond)
Hlavní autoři: Rahman, Joyeeta, Rahman, Shamima
Médium: Artigo
Jazyk:Inglês
Vydáno: Royal College of Physicians 2019
Témata:
On-line přístup: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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