High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐ O ‐methyldopa from dried blood spots
Author:
Affiliation:
1. Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine University Children's Hospital Heidelberg Germany
Funder
Dietmar Hopp Stiftung
Medizinischen Fakultät Heidelberg, Universität Heidelberg
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12208
Reference24 articles.
1. Aromatic l-amino acid decarboxylase deficiency in Taiwan
2. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
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4. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
5. Gene Therapy for Aromatic l -Amino Acid Decarboxylase Deficiency
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3. 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
4. Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations;Molecular Genetics and Metabolism;2024-03
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