Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations-Reference-Cited by-同舟云学术

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations

Published:2022-12 Issue:4 Volume:137 Page:359-381
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Himmelreich Nastassja,Montioli Riccardo,Garbade Sven F.,Kopesky Jeffrey,Elsea Sarah H.,Carducci Carla,Voltattorni Carla B.,Blau Nenad

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

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3. Aromatic amino acid decarboxylase deficiency in twins;Hyland;J. Inherit. Metab. Dis.,1990

4. Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview;Cellini;Open Biochem. J.,2012

5. Aromatic amino acid decarboxylase deficiency: the added value of biochemistry;Montioli;Int. J. Mol. Sci.,2021

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

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4. Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus;Behavioural Neurology;2024-04-09

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