Latest Publications
Ongoing research produces publications. We are happy to share our knowledge in peer-review consensus guidelines that help physicians and clinicians to find valid diagnoses and proper treatment strategies for their patients.
Gene therapy for aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency (AADC-M) is a rare, autosomal recessive neurometabolic disorder caused by pathogenic variants in the DDC gene, leading to a severe impairment of dopamine and serotonin synthesis. The severe form of [...]
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents [...]
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 [...]
Neurotransmitters… it is all about communication!
JIMD Special Issue Communication was also the main goal of the conference “Rare-neurotransmitter-related diseases—Research to treatment (RNTD-R2T)” which took place in the city of Belgrade, Serbia, with 184 participants from 24 countries. With funding from [...]
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 [...]
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
Elevated serum prolactin concentrations occur in inherited disorders of biogenic amine metabolism because dopamine deficiency leads to insufficient inhibition of prolactin secretion. This work from the International Working Group on Neurotransmitter Related Disorders (iNTD) presents [...]