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| Likely inborn error of metabolism - targeted testing not possible v1.47 | ALDOB |
Ivone Leong Source NHS GMS was added to ALDOB. Source London North GLH was added to ALDOB. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ALDOB |
Ellen McDonagh gene: ALDOB was added gene: ALDOB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 27604308 Phenotypes for gene: ALDOB were set to hereditary fructose intolerance; Hereditary fructose intolerance (Disorders of fructose metabolism); acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation |
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