ArticleMolecular genetics and metabolism reports2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders.
Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BHOrphanet journal of rare diseases · 2020Guideline
- Phenotypic Clues in Infantile-Onset Parkinsonism-Dystonia-2: A Treatable Neurotransmitter Disorder.Movement disorders clinical practice · 2026Article
- Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies.Frontiers in molecular biosciences · 2026Review
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Excitatory/Inhibitory balance in autism spectrum disorders: Integrating genetic, neurotransmitter and computational perspectives.AIMS neuroscience · 2025Review
- Gene therapy for neurotransmitter-related disorders.Journal of inherited metabolic disease · 2024Review
- Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.European journal of pediatrics · 2023Review
- A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.Orphanet journal of rare diseases · 2023Review
- Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.Metabolic brain disease · 2022Article
- Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency.Frontiers in pediatrics · 2022Article
- Analytical Method Validation for Estimation of Neurotransmitters (Biogenic Monoamines) from Cerebrospinal Fluid Using High Performance Liquid Chromatography.Indian journal of clinical biochemistry : IJCB · 2022Article
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- Integrated network pharmacology and hepatic metabolomics to reveal the mechanism ofFrontiers in cell and developmental biology · 2022Article
- Case report: Aromatic L-amino acid decarboxylase deficiency in three patient cases from the Kingdom of Saudi Arabia.Frontiers in pediatrics · 2022Article
- Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.Neurogenetics · 2021Article
- Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.Nature communications · 2021Article
- Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.EMBO molecular medicine · 2021Article
- Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment.Molecular genetics and metabolism reports · 2021Article
- U-IMD: the first Unified European registry for inherited metabolic diseases.Orphanet journal of rare diseases · 2021Article
- Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.Metabolic brain disease · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 12 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionNeurotransmitters 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 very rare neurometabolic diseases resulting in neurological impairment at any age from newborn to adulthood. METHODS AND
resultsThe International Working Group on Neurotransmitter related Disorders (iNTD) is the first international network focusing on the study of primary and secondary neurotransmitter disorders. It was founded with the aim to foster exchange and improve knowledge in the field of these rare diseases. The newly established iNTD patient registry for neurotransmitter related diseases collects longitudinal data on the natural disease course, approach to diagnosis, therapeutic strategies, and quality of life of affected patients. The registry forms the evidence base for the development of consensus guidelines for patients with neurotransmitter related disorders.
conclusionThe iNTD network and registry will improve knowledge and strengthen research capacities in the field of inborn neurotransmitter disorders. The evidence-based guidelines will facilitate standardized diagnostic procedures and treatment approaches.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.