Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

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 [...]

By |2022-01-21T10:27:18+00:00January 21st, 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 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 [...]

By |2022-01-14T11:56:06+00:00January 14th, 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, 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 [...]

By |2022-01-05T10:08:16+00:00January 5th, 2022|

Rare neurotransmitter diseases: from novel research to focused treatments through iNTD network strengthening and patient empowerment

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 [...]

By |2021-12-22T13:02:17+00:00December 7th, 2021|

34th Annual Meeting of the „Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen“ (APS)

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 [...]

By |2019-09-27T12:21:01+01:00September 27th, 2019|

Worldwide rare disease study led by Washington State University researchers

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 [...]

By |2019-03-05T07:40:07+00:00March 5th, 2019|
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