N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …
with a familial disorder has a number of problems when used as a reference list of …
Monoamine neurotransmitter disorders—clinical advances and future perspectives
The monoamine neurotransmitter disorders are important genetic syndromes that cause
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
[HTML][HTML] Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
Aromatic L-amino acid decarboxylase deficiency results in decreased neurotransmitter
levels and severe motor dysfunction. Twenty-six patients without head control received …
levels and severe motor dysfunction. Twenty-six patients without head control received …
[HTML][HTML] Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
TS Pearson, N Gupta, W San Sebastian… - Nature …, 2021 - nature.com
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder
characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy …
characterized by deficient synthesis of dopamine and serotonin. It presents in early infancy …
[HTML][HTML] Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
T Wassenberg, M Molero-Luis, K Jeltsch… - Orphanet journal of rare …, 2017 - Springer
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive
neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine …
neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine …
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
The monoamine neurotransmitter disorders consist of a rapidly expanding heterogeneous
group of neurological syndromes characterised by primary and secondary defects in the …
group of neurological syndromes characterised by primary and secondary defects in the …
Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency
K Kojima, T Nakajima, N Taga, A Miyauchi, M Kato… - Brain, 2019 - academic.oup.com
In patients with aromatic l-amino acid decarboxylase (AADC) deficiency, a decrease in
catecholamines and serotonin levels in the brain leads to developmental delay and …
catecholamines and serotonin levels in the brain leads to developmental delay and …
Gene Therapy for Aromatic l-Amino Acid Decarboxylase Deficiency
WL Hwu, S Muramatsu, SH Tseng, KY Tzen… - Science translational …, 2012 - science.org
Aromatic l-amino acid decarboxylase (AADC) is required for the synthesis of the
neurotransmitters dopamine and serotonin. Children with defects in the AADC gene show …
neurotransmitters dopamine and serotonin. Children with defects in the AADC gene show …
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
YH Chien, NC Lee, SH Tseng, CH Tai… - The Lancet Child & …, 2017 - thelancet.com
Background Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disease
that causes depletion of neurotransmitters and severe motor dysfunction in infants and …
that causes depletion of neurotransmitters and severe motor dysfunction in infants and …
Clinical features in aromatic L‐amino acid decarboxylase (AADC) deficiency: a systematic review
S Rizzi, C Spagnoli, D Frattini, F Pisani… - Behavioural …, 2022 - Wiley Online Library
Aromatic L‐amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal
recessive metabolic disorder caused by pathogenic homozygous or compound …
recessive metabolic disorder caused by pathogenic homozygous or compound …