5 results on '"Di Pietro, Valentina"'
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2. Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion–8 bp insertion of the APRT gene suffering from severe renal failure
3. Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism
4. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion
5. A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity
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