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

Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia.

Neuropediatrics - 1 Feb 2018

Gulab Shamshad, Kayyali Husam R, Al-Said Youssef

Abstract excerpt

Manganese (Mn) is an essential element in trace quantity but large amounts are toxic. A novel hereditary disorder encompassing high blood Mn levels, dystonia, polycythemia, distinctive T1 hyperintense signals in the basal ganglia on magnetic resonance imaging (MRI) brain, and chronic liver disease was recently described. The disorder is caused by mutations in a Mn transporter encoding gene SLC30A10. We are...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Child
Share to Magnetic Resonance Imaging

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Manganese

Share to Metabolic Diseases

Share to Mutation

Share to Siblings

Share to Zinc Transporter 8

Source

Identifiers

PMID: 29179235
DOI: 10.1055/s-0037-1608778

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical Neurologic Phenotype and Novel SLC30A10 Mutation in Two Brothers with Hereditary Hypermanganesemia.PMID 29179235Read ↗

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.Semantic proximity Read ↗

Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.Semantic 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 ↗

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

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.Semantic proximity Read ↗

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.Semantic proximity Read ↗

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.Semantic proximity Read ↗

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

Hypermanganesaemia with dystonia polycythemia and cirrhosis.Semantic proximity Read ↗

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder.Semantic proximity Read ↗

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

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

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