Titolo | Pubblicato in | Anno |
---|---|---|
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase | JOURNAL OF INHERITED METABOLIC DISEASE | 2016 |
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) | JOURNAL OF INHERITED METABOLIC DISEASE | 2016 |
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency | MOLECULAR GENETICS AND METABOLISM | 2015 |
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