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102 results
  1. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... prealbumin, CRP, essential fatty acids, calcium, magnesium, phosphate, copper, zinc, selenium, folate, and vitamins A, D, E, ... CRP 1 , essential fatty acids, calcium, magnesium, phosphate, copper, zinc, selenium, folate, & vitamins A, D, E, & B ...
  2. FBLN5-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5201
    ... ELN are the lysyl oxidases, a group of copper-dependent enzymes (deficient in secondary cutis laxa associated with treatment with copper chelators like penicillamine) that form covalent crosslinks between ...
  3. MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK597768
    ... disability, and seizures. Imaging findings include diffuse osteopenia, copper-beaten appearance of the skull, dysplasia of multiple ... long bones or lateral skull radiograph Diffuse osteopenia Copper-beaten appearance of the skull Dysplasia of multiple ...
  4. SGCE Myoclonus-Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1414
    ... ATP7B Wilson disease AR Dystonia Biochemical findings: ↓ serum copper & ceruloplasmin concentrations; ↑ urinary copper excretion Kayser-Fleischer corneal ring ATXN3 Spinocerebellar ataxia ...
  5. Birth Control | Contraception | Contraceptives | MedlinePlus 
    https://medlineplus.gov/birthcontrol.html
    ... years. There are two types: hormonal IUDs and copper IUDs. Sterilization Tubal ligation A surgery that prevents ... if a condom breaks. There are two types: Copper IUD, which is a small, T-shaped device ...
  6. Arterial Tortuosity Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK253404
    ... cataract. ATP7A Occipital horn syndrome (OHS) (See ATP7A Copper Transport Disorders .) XL Occipital horns 3 (may be ... posted live 14 February 2014 (blc) Original submission References Literature Cited Adamo CS, Beyens A, Schiavinato A, ...
  7. Huntington Disease-Like 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1529
    ... disorders Psychiatric disorders Liver disease Kayser-Fleischer rings Copper abnormalities Exclusion is essential since Wilson disease is ... posted live 15 September 2003 (rm) Original submission References Published Guidelines / Consensus Statements Committee on Bioethics, Committee ...
  8. Excluded Studies - Screening for Adolescent Idiopathic Scoliosis - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK493366
    ... Cienciala J. Idiopathic scoliosis and concentrations of zinc, copper, and selenium in blood plasma. Biological Trace Element ... WB, Schader JB, Phippen WG. Elevation of hair copper in idiopathic scoliosis. A follow-up report. Spine. ...
  9. Genetic Prion Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1229
    ... unknown, although roles in synapse formation, delivery of copper to cells, and cell signaling have been proposed. ... posted live 12 April 2002 (jm) Original submission References Published Guidelines / Consensus Statements Committee on Bioethics, Committee ...
  10. Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1509
    ... deficiency Nutritional disorders (reviewed in Hedera [2016] ) including copper deficiency, vitamin B 12 and E deficiencies Early- ... posted live 21 March 2000 (jf) Original submission References Literature Cited Abou Jamra R, Philippe O, Raas- ...
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