Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Journal of inherited metabolic disease - 1 Jan 2018

Kuster Alice, Arnoux Jean-Baptiste, Barth Magalie, Lamireau Delphine, Houcinat Nada, Goizet Cyril, Doray Bérénice, Gobin Stéphanie, Schiff Manuel, Cano Aline, Amsallem Daniel, Barnerias Christine, Chaumette Boris, Plaze Marion, Slama Abdelhamid, Ioos Christine, Desguerre Isabelle, Lebre Anne-Sophie, de Lonlay Pascale, Christa Laurence

Abstract excerpt

BACKGROUND AND AIM: To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns. METHODS: Neurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified. RESULTS: We have reported primary (30/54, 56%) and secondary (24/54,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biogenic Monoamines

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Biomarkers

Share to Brain Diseases, Metabolic, Inborn

Share to Gene Expression Profiling

Share to Genetic Markers

Share to Predictive Value of Tests

Share to Prognosis

Share to Registries

Source

Identifiers

PMID: 28924877
DOI: 10.1007/s10545-017-0079-6

Genes

ACSF3
ADAR
CASK
DDC
EXOSC3
FOLR1
FOXG1
KCNQ2
MTHFR
MTM1
NFU1
PAH
POLG
PTS
QDPR
RNASET2
SDHD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.PMID 28924877Read ↗

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.Semantic proximity Read ↗

Mutations in human monoamine-related neurotransmitter pathway genes.Semantic proximity Read ↗

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.Semantic proximity Read ↗

Phenotypic features of children with neurodevelopmental diseases in relation to biogenic amines.Semantic proximity Read ↗

Diagnosis and treatment of neurotransmitter-related disorders.Semantic proximity Read ↗

SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.Semantic proximity Read ↗

Polyglutamine disorders: Pathogenesis and potential drug interventionsSemantic proximity Read ↗

Catecholamine phenotyping: clues to the diagnosis, treatment, and pathophysiology of neurogenetic disorders.Semantic proximity Read ↗

Neurotransmitter abnormalities and response to supplementation in SPG11.Semantic proximity Read ↗

The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism.Semantic proximity Read ↗

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.Semantic proximity Read ↗

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.