Aromatic L-amino Acid Decarboxylase Deficiency
What's New
Last Posted: Mar 10, 2023
- Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Batllori Marta, et al. Scientific reports 2017 0 (1) 14675 - The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Yongxin, et al. Journal of human genetics 2020 0 (9) 759-769 - Long-term neurological and psychiatric outcomes in patients with aromatic l-amino acid decarboxylase deficiency.
Manti Filippo, et al. Parkinsonism & related disorders 2022 0 105-111 - Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
TS Pearson et al, Nat Comms, July 12, 2021 - High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl Heiko et al. Journal of inherited metabolic disease 2019 Dec - 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic l-amino-acid decarboxylase deficiency.
Chien Yin-Hsiu et al. Molecular genetics and metabolism 2016 Aug 118(4) 259-63 - Aromatic L-amino acid decarboxylase deficiency
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 01, 2024
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