Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders-Reference-Cited by-同舟云学术

Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders

Published:2023-09 Issue: Volume:673 Page:131-136
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Riva Antonella^ORCID,Iacomino Michele,Piccardo Chiara,Franceschetti Laura,Franchini Rossella^ORCID,Baroni Alessandra,Minetti Carlo,Bisello Giovanni^ORCID,Zara Federico,Scala Marcello,Striano Pasquale^ORCID,Bertoldi Mariarita^ORCID

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference32 articles.

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

2. The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China;Wen;J. Hum. Genet.,2020

3. Mammalian Dopa decarboxylase: structure, catalytic activity and inhibition;Bertoldi;Arch. Biochem. Biophys.,2014

4. Widening phenotypic spectrum of AADC deficiency, a disorder of dopamine and serotonin synthesis;Helman;JIMD Rep.,2014

5. The monoamine neurotransmitter disorders: an expanding range of neurological syndromes;Kurian;Lancet Neurol.,2011

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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

2. An attenuated, adult case of AADC deficiency demonstrated by protein characterization;Molecular Genetics and Metabolism Reports;2024-06

3. 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

4. Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders;Genes;2023-09-21