Affected children present with delay or loss of motor developmental milestones (e.g., delayed walking, gait disturbance). [ncbi.nlm.nih.gov]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

Muscle(2.1) Genes that share expression patterns with SLC39A8: view Primer products for research HP214400 MP220415 HK206833 No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC39A8 Gene This gene was present [genecards.org]

Importantly, as highlighted above, we found that many of differentiation and depolarization associated modules were present in independent in vivo and in vitro expression data sets (Table 1), providing independent validation for these in vitro iPSC-derived [genomemedicine.biomedcentral.com]

• Intravenous Administration

  While chelation therapy with intravenous administration of disodium calcium edetate early in the disease course shows promise, additional studies are warranted. [ncbi.nlm.nih.gov]

• Asymptomatic

  Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder. [ncbi.nlm.nih.gov]

• Aspiration

  Gastric feeding tube and/or tracheostomy may be required to prevent aspiration pneumonia. [ncbi.nlm.nih.gov]

• Hypomimia

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Psychiatric Symptoms

  symptoms; history of Mn exposure from environmental sources, parenteral nutrition, or contaminated ephedrone preparations Acquired hepatocerebral degeneration 2 NA NA Liver disease is the predominant feature; it precedes development of neurologic symptoms [ncbi.nlm.nih.gov]

• Tremor

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Bradykinesia

  Early in the disease course, children show axial hypotonia followed by dystonia, spasticity, dysarthria, bulbar dysfunction, and signs of parkinsonism including bradykinesia, hypomimia, and tremor. [ncbi.nlm.nih.gov]

• Neurologic Manifestation

  After six months of treatment, neurologic manifestations improved and the child regained the ability to walk. [ncbi.nlm.nih.gov]

• Gliosis

  The neuropathologic findings in one individual with SLC39A14 deficiency [Tuschl et al 2016] included: Extensive gliosis and neuronal loss in the globus pallidus and dentate nucleus; Preservation of neurons in the cerebral and cerebellar cortex as well [ncbi.nlm.nih.gov]

[…] of Manifestations Symptomatic treatment. [ncbi.nlm.nih.gov]

Purpose of Review This article provides an overview of the pathogenesis, clinical presentation and treatment of inherited manganese transporter defects. [x-mol.com]

Gastroenterology 150 (4), S48, 201622016Su1179 Reproducibility of Serologic Antibody Activity At Diagnosis and After Treatment in Ulcerative Colitis (UC) and Crohn's Disease (CD). [scholar.google.com]

Down-regulated following phorbol ester treatment (PubMed:12504855). Up-regulated by zinc and T-cell activation (PubMed:19401385). [genecards.org]

[…] brown, tan, green yellow, and midnight blue modules) demonstrated significant overlap with previously defined depolarization-associated gene sets defined in mouse cortical neurons [46] and human neuroblastoma cells (IMR-32) [45] before and after KCl treatment [genomemedicine.biomedcentral.com]

Journal of Crohn's and Colitis 4 (5), 561-566, 2010282010Widespread but not localized neoplasia in inflammatory bowel disease worsens the prognosis of colorectal cancer S Brackmann, G Aamodt, SN Andersen, B Roald, F Langmark, ... [scholar.google.com]

Given the increasing appreciation for rare monogenic contributions to ASD [11]-[13], TS provides a powerful avenue for understanding both basic neurobiological processes and ASD pathophysiology. [genomemedicine.biomedcentral.com]

Prevention of Primary Manifestations Chelation therapy with disodium calcium edetate may prevent primary disease manifestations in affected sibs who are asymptomatic (see Treatment of Manifestations). [ncbi.nlm.nih.gov]