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 European Joint Programme Rare Diseases (EJPRD) and with the aim of fostering involvement of and exchange between all stakeholders, [...]
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. They are major causes of early parkinsonism and other spectrum of movement disorders including dopa-responsive dystonia. Objectives: The objective of this [...]
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience Objective: Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inherited autosomal recessive disorder of biogenic amine metabolism. Diagnosis requires analysis of neurotransmitter metabolites in cerebrospinal fluid, AADC [...]
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors [...]
Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment Save the Date: 29th September - 01st October 2022 We are pleased to announce that the conference on rare neurotransmitter diseases will take place on 29th September - 01st October [...]
34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS), March 4-7, 2020, Fulda, Germany Dear colleagues, friends, and families, In March 2020 (4-7th March), the 34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS) will be held in Fulda (Germany) with a focus on [...]
Worldwide rare disease study led by Washington State University researchers Researchers Jean-Baptiste Roullet and Mike Gibson of the WSU College of Pharmacy and Pharmaceutical Sciences are conducting a natural history study of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD). SSADHD is a genetic disorder that is [...]
