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| Likely inborn error of metabolism - targeted testing not possible v1.47 | IVD |
Ivone Leong Source NHS GMS was added to IVD. Source London North GLH was added to IVD. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | IVD |
Ellen McDonagh gene: IVD was added gene: IVD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 27604308; 24816252 Phenotypes for gene: IVD were set to metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.; Isovaleric acidemia; Isovaleric aciduria (Organic acidurias) |
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