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
3. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
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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1. Gene therapy for neurotransmitter‐related disorders;Journal of Inherited Metabolic Disease;2024-01
2. Streamlined determination of 3-O-methyldopa in dried blood spots: Prospective screening for aromatic l-amino-acid decarboxylase deficiency;Molecular Genetics and Metabolism;2023-09
3. Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders;Biochemical and Biophysical Research Communications;2023-09
4. Aromatic l‐amino acid decarboxylase deficiency in Taiwan;JIMD Reports;2023-08-02
5. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes;Molecular Genetics and Metabolism;2023-08
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