1401, 2022
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Detection of 3-O-methyldopa in dried blood spots for [...]
1001, 2022
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Brain MR patterns in inherited disorders of monoamine [...]
501, 2022
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Assessment of intellectual impairment, health-related quality of life, [...]
2812, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting [...]
712, 2021
Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment
Rare neurotransmitter diseases: from novel research to focused [...]