ArticleNature communications2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.Journal of inherited metabolic disease · 2025Guideline
- Plasma Aromatic L-Amino Acid Decarboxylase Activity by HPLC as a Functional Biomarker for the Diagnosis of Aromatic L-Amino Acid Decarboxylase Deficiency.Metabolites · 2026Article
- The Route of Biogenic Amines in Alcoholic Beverages: A Focus on Wine.Foods (Basel, Switzerland) · 2026Review
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.Journal of inherited metabolic disease · 2026Article
- Review
- 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
- Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.Movement disorders clinical practice · 2024Article
- Fast Label-Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Gene therapy for neurotransmitter-related disorders.Journal of inherited metabolic disease · 2024Review
- Intraputaminal Gene Delivery in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency.Movement disorders clinical practice · 2023Article
- Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.BMC medical genomics · 2023Article
- Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.Genes · 2023Review
- Structural basis of organic cation transporter-3 inhibition.Nature communications · 2022Article
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia-A Focus on Tyrosine Hydroxylase Deficiency.Journal of personalized medicine · 2021Review
- Pediatric parkinsonism: clinical review and a proposed clinical algorithm.Frontiers in neurologyReview
Corrections and comments
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Authors and funding
32 authors at 20 institutions in 18 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders.
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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.