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

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 Gene

21 Mar 2022

Abstract excerpt

Mutations in the manganese transporter gene SLC39A14 lead to inherited disorders of manganese metabolism. Chelation therapy with edetate calcium disodium (CaNa2EDTA) is known to effectively reduce manganese deposition. We describe the first identified Korean case of SLC39A14-associated manganism and the treatment response to a 5-year chelation therapy. An 18-year-old female presented with childhood-onset...

Read the complete abstract on PubMed

Topics

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

Share to Heavy Metal Exposure and Toxicity
Share to Pharmacological Effects and Toxicity Studies
Share to Trace Elements in Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35306789
DOI: 10.14802/jmd.21143

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Effect of Chelation Therapy on a Korean Patient With Brain Manganese Deposition Resulting From a Compound Heterozygous Mutation in the SLC39A14 GenePMID 35306789Read ↗

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies.Semantic proximity Read ↗

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.Semantic proximity Read ↗

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system.Semantic proximity Read ↗

Manganese Neurotoxicity: A Comprehensive Review of Pathophysiology and Inherited and Acquired DisordersSemantic proximity Read ↗

A novel pipeline for the validation of manganese chelators for the treatment of manganese overloadSemantic proximity Read ↗

Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.Semantic proximity Read ↗

Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia.Semantic proximity Read ↗

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Semantic proximity Read ↗

SLC39A14 mutations expand the spectrum of manganese transporter defects causing parkinsonism-dystonia.Semantic proximity Read ↗

Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models.Semantic proximity Read ↗

A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsSemantic proximity Read ↗

Identification of a putative founder variant in SLC30A10 associated with hypermanganesemia with dystonia 1 in Iranian patients: a case series and literature reviewSemantic proximity Read ↗

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