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New Patient and parent group for neurotransmitter related disorders founded in Germany

The first parent and patient organization within Germany for disorders that are affecting the neurotransmitter metabolism was founded recently within the framework of the DIG PKU. The group aims to improve the situation of families affected by these rare diseases and to bring them together for an exchange of their experiences. The group can be [...]

By |2018-11-08T08:43:00+00:00March 1st, 2018|

Consensus guideline for the diagnosis and tTreatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and [...]

By |2018-11-08T12:03:22+00:00November 8th, 2017|

Recordati Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERS

The Recordati Rare Diseases foundation Focus Course on SYNAPTIC METABOLISM AND BRAIN CIRCUITRIES IN IEM: EXPLORING OLD AND NEW DISORDERs is held  on 16 - 18 November in Barcelona, Spain. The course will focus on the synapse as a highly specialized structure with specific chemical composition and metabolic functions necessary for an appropriate neuronal communication [...]

By |2018-11-08T08:44:18+00:00July 19th, 2017|

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders. Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of [...]

By |2018-11-08T12:07:26+00:00December 8th, 2016|