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

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.

Prenatal diagnosis - 1 Aug 2005

Møller Lisbeth Birk, Romstad Anne, Paulsen Marianne, Hougaard Pia, Ormazabal Aida, Pineda Mercé, Blau Nenad, Güttler Flemming, Artuch Rafael

Abstract excerpt

OBJECTIVES: Tyrosine hydroxylase (TH) is a key enzyme in the biosynthesis of dopamine, epinephrine and norepinephrine. The primary diagnosis of TH deficiency is based on the measurement of neurotransmitter metabolites and pterins in the cerebrospinal fluid, and the final diagnosis is made by dete...

Read the complete abstract on PubMed

Topics

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

Share to Brain Diseases, Metabolic, Inborn
Share to Child, Preschool
Share to Muscle Hypotonia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Tyrosine 3-Monooxygenase

Source

Identifiers

PMID: 16049992
DOI: 10.1002/pd.1193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16049992-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.PMID 16049992Read ↗

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism.Semantic proximity Read ↗

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.Semantic proximity Read ↗

Biochemical and Molecular Genetic Characteristics of the Severe Form of Tyrosine Hydroxylase DeficiencySemantic proximity Read ↗

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

A novel compound heterozygous tyrosine hydroxylase mutation (p.R441P) with complex phenotype.Semantic proximity Read ↗

Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.Semantic proximity Read ↗

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.Semantic proximity Read ↗

Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.Semantic proximity Read ↗

[Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency].Semantic proximity Read ↗

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.Semantic proximity Read ↗

Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China.Semantic proximity Read ↗

Phenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.Semantic proximity Read ↗

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