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