Associated Papers
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Gowda VK et al.
Brain & Development, 2025
The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.
Carmona-Carmona CA et al.
The Febs Journal, 2025
A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failure.
Uçar SK et al.
The Febs Journal, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview.
Tabolacci C et al.
Biomolecules, 2025
A computational study on structural and functional consequences of nsSNPs in human dopa decarboxylase.
Kumar SB et al.
Journal of Biomolecular Structure & Dynamics, 2025
Mild/moderate phenotypes in AADC deficiency: Focus on the aromatic amino acid decarboxylase protein.
Bisello G et al.
Journal of Inherited Metabolic Disease, 2025
REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and In Silico Structural Modeling of One Index Case.
Strehle EM et al.
Genetic Testing and Molecular Biomarkers, 2025
Adult-onset focal hand dystonia in aromatic L-amino acid decarboxylase deficiency.
Zhang S et al.
Parkinsonism & Related Disorders, 2024
An attenuated, adult case of AADC deficiency demonstrated by protein characterization.
Bisello G et al.
Molecular Genetics and Metabolism Reports, 2024
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study.
Park JE et al.
Pediatric Research, 2023
Active site serine-193 modulates activity of human aromatic amino acid decarboxylase.
Bisello G et al.
Biochemical and Biophysical Research Communications, 2023
Exome sequencing data screening to identify undiagnosed Aromatic l-amino acid decarboxylase deficiency in neurodevelopmental disorders.
Riva A et al.
Biochemical and Biophysical Research Communications, 2023
Aromatic l-amino acid decarboxylase deficiency in Taiwan.
Hwu WL et al.
Jimd Reports, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Human aromatic amino acid decarboxylase is an asymmetric and flexible enzyme: Implication in aromatic amino acid decarboxylase deficiency.
Bisello G et al.
Protein Science : a Publication of the Protein Society, 2023
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Abukhaled M et al.
European Journal of Pediatrics, 2023
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Mastrangelo M et al.
Genes, 2023
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants.
Cursio I et al.
Frontiers in Neurology, 2023
Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population.
Bisello G et al.
International Journal of Molecular Sciences, 2022
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Civallero G et al.
Molecular Genetics and Metabolism Reports, 2022
The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.
Bisello G et al.
Cellular and Molecular Life Sciences : Cmls, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Oculogyric crisis mimicked epilepsy in a Chinese aromatic L-amino acid decarboxylase-deficiency patient: A case report.
Wang H et al.
Frontiers in Neurology, 2022
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review.
Rizzi S et al.
Behavioural Neurology, 2022
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies.
Rossignoli G et al.
Brain : a Journal of Neurology, 2021
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases.
Kubaski F et al.
Molecular Genetics and Metabolism Reports, 2021
Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.
Wassenberg T et al.
Molecular Genetics and Metabolism Reports, 2021
Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry.
Montioli R et al.
International Journal of Molecular Sciences, 2021
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Tristán-Noguero A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Pearson TS et al.
Journal of Inherited Metabolic Disease, 2020
The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y et al.
Journal of Human Genetics, 2020
Prevalence of Aromatic l-Amino Acid Decarboxylase Deficiency in At-Risk Populations.
Hyland K et al.
Pediatric Neurology, 2020
Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
Dai W et al.
Molecular Genetics & Genomic Medicine, 2020
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Himmelreich N et al.
Molecular Genetics and Metabolism, 2019
A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.
Dai L et al.
Brain & Development, 2019
Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
Montioli R et al.
Iubmb Life, 2018
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori M et al.
Scientific Reports, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T et al.
Orphanet Journal of Rare Diseases, 2017
Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.
Spitz MA et al.
Jimd Reports, 2017
The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.
Montioli R et al.
Biochimica Et Biophysica Acta, 2016
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Montioli R et al.
Human Molecular Genetics, 2014
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Molero-Luis M et al.
Developmental Medicine and Child Neurology, 2013
Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overview.
Cellini B et al.
The Open Biochemistry Journal, 2012
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiency.
Barth M et al.
Jimd Reports, 2012
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradox.
Wassenberg T et al.
Molecular Genetics and Metabolism, 2010