An attenuated, adult case of AADC deficiency demonstrated by protein characterization-Reference-Cited by-同舟云学术

An attenuated, adult case of AADC deficiency demonstrated by protein characterization

Published:2024-06 Issue: Volume:39 Page:101071
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Bisello Giovanni,Saris Christiaan G.J.,Franchini Rossella,Verbeek Marcel M.,Willemsen Michel A.A.P.,Perduca Massimiliano,Bertoldi Mariarita

Funder

PTC Therapeutics Inc

University of Verona

Ministero dell'Università e della Ricerca

Publisher

Elsevier BV

Reference23 articles.

1. Mammalian Dopa decarboxylase: structure, catalytic activity and inhibition;Bertoldi;Arch. Biochem. Biophys.,2014

2. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet J. Rare Dis.,2017

3. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Himmelreich;Mol. Genet. Metab.,2023

4. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders;Riva;Biochem. Biophys. Res. Commun.,2023

5. Case report: childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants;Cursio;Front. Neurol.,2023

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1. Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein;Journal of Inherited Metabolic Disease;2024-08-21