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In patients with residual CBS activity (between 0% and 2% of normal), approximately half of the cases of homozygous homocystinuria, pyridoxine treatment can decrease the hyperhomocysteinemia
Only mild gastrointestinal side effects, such as diarrhea, are reported at this upper range (Sharma et al., 2004)
Gain-of-function mutation in ACOX1, Mitchell Syndrome: Gain-of-function mutation in peroxisomal acyl-CoA oxidase 1 (ACOX1) is a very rare heterozygous missense variant (p
& Carpino, A
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