10 results on '"Bertoldi, Mariarita"'
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2. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
3. Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
4. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency
5. A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies
6. Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
7. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
8. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
9. PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
10. Corrigendum to “Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook” [Mol Genet Metab. 2019 May;127(1):12–22]
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