Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations-Reference-Cited by-同舟云学术

Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations

Published:2024-03 Issue:3 Volume:141 Page:108148
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Reischl-Hajiabadi Anna T.,Okun Jürgen G.,Kohlmüller Dirk,Manukjan Georgi,Hegert Sebastian,Durner Jürgen,Schuhmann Elfriede,Hörster Friederike,Mütze Ulrike,Feyh Patrik,Hoffmann Georg F.,Röschinger Wulf,Janzen Nils,Opladen Thomas

Publisher

Elsevier BV

Reference23 articles.

1. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency;Brun;Neurology.,2010

2. Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up;Manegold;J. Inherit. Metab. Dis.,2009

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

4. 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

5. 3-O-methyldopa levels in newborns: result of newborn screening for aromatic l-amino-acid decarboxylase deficiency;Chien;Mol. Genet. Metab.,2016

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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