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In Table 1 the threshold laboratory parameters and the probability of Wilson disease according to the clinical and laboratory findings is summarized

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

Severe vitamin E deficiency has been associated with specific genetic defects affecting the hepatic trafficking of -tocopherol by -tocopherol transfer protein (-TTP) and transport in lipoproteins (apolipoprotein B)

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However, we could not detect a reversion of the FA cytotoxic phenotype by pre-treating adult animals for 2 h with NAC (Supplementary Fig