1004, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
The objective of the study is to evaluate the evolving [...]
1507, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Elevated serum prolactin concentrations occur in inherited disorders of biogenic [...]
507, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
The autosomal recessive defect of aromatic L-amino acid decarboxylase (AADC) [...]
3011, 2022
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, [...]
2605, 2022
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is [...]