Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference36 articles.
1. Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis;Hyland;Neurology,1992
2. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency;Wassenberg;Orphanet J. Rare Dis.,2017
3. AADC deficiency from infancy to adulthood: symptoms and developmental outcome in an international cohort of 63 patients;Pearson;J. Inherit. Metab. Dis.,2020
4. 3-O-methyldopa levels in newborns: result of newborn screening for aromatic l-amino-acid decarboxylase deficiency;Chien;Mol. Genet. Metab.,2016
5. Novel variants in aromatic L-amino acid decarboxylase deficiency: case report of sisters with mild phenotype;Hasegawa;Brain Dev,2021
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants;Frontiers in Neurology;2023-12-05
2. 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
3. Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up;Journal of Inherited Metabolic Disease;2023-07-17
4. Intraputaminal Gene Delivery in Two Patients with Aromatic L‐Amino Acid Decarboxylase Deficiency;Movement Disorders Clinical Practice;2023-02-24
5. Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism;Genes;2023-01-19
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