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26 results
  1. ... Locus-Specific Databases HGMD ClinVar SLC30A10 1q41 Calcium/manganese antiporter SLC30A10 SLC30A10 @ LOVD SLC30A10 SLC30A10 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... Anterior pituitary gland Laboratory findings. Hypermanganesemia. Whole-blood manganese levels are markedly elevated, usually above 1,000 nmol/L (normal reference range <320 nmol/L). Establishing the Diagnosis The ...
  3. ... Nutrition Disorders (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine) Article: Manganese exposure assessment in formula-fed infants in Israel. ...
  4. ... of disease causation. Loss of function, with impaired manganese transport across the channel encoded by SLC39A8 [ Choi et al 2018 ] Table 7. Notable SLC39A8 Pathogenic Variants View in own window Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  5. Institute of Medicine (US) Panel on Micronutrients. Dietary Reference Intakes for Vitamin A, Vitamin K, Arsenic, Boron, Chromium, Copper, Iodine, Iron, Manganese, Molybdenum, Nickel, Silicon, Vanadium, and Zinc. Washington, DC: ...
  6. ... Health, Office of Dietary Supplements) Also in Spanish Manganese ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  7. ... Albiin N, Kartalis N, Bergquist A, et al. Manganese chloride tetrahydrate (CMC-001) enhanced liver MRI: evaluation ... Golman K, Mansson S, et al. Orally administered Manganese with and without Ascorbic Acid as a liver- ...
  8. ... from PJ. One potential genetic biomarker candidate is manganese superoxide dismutase ( MnSOD ), which is the primary antioxidant ... then treated with sodium selenite. The cells overexpressing manganese superoxide dismutase ( MnSOD ) were the only ones able ...
  9. ... Wilson disease but is caused by disturbances of manganese metabolism. It is characterized by early-onset generalized dystonia and adult-onset parkinsonism. Serum manganese levels are elevated and brain MRI examination shows ...
  10. ... atrophy Strabismus; short stature; recurrent infections ↓ blood & urine manganese, type II glycosylation defect Riley et al [2017] ... Balasubramaniam S, Christodoulou J. A. SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. J Inher ...
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