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102 results
  1. Isolated and Classic Cutis Marmorata Telangiectatica Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581081
    ... S, Taylor G, Nykanen D, Chitayat D. High copper levels and increased elastolysis in a patient with ... Management Genetic Counseling Resources Molecular Genetics Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. EFEMP2-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK54467
    ... ARCL2A ATP7A Occipital horn syndrome (OHS) (See ATP7A Copper Transport Disorders .) XL + – + + Vascular tortuosity (mainly of cerebral ... posted live 9 July 2010 (bl) Original submission References Literature Cited Adamo CS, Beyens A, Schiavinato A, ...
  3. POLG-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK26471
    ... persons. 2 ATP7A Menkes disease (See ATP7A -Related Copper Transport Disorders .) XL Neonatal-onset progressive encephalopathy w/ ... posted live 9 December 2007 (bhc) Original submission References Literature Cited Alves CAPF, Gonçalves FG, Grieb D, ...
  4. Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1504
    ... blood cell essential fatty acids, trace minerals (zinc, copper, selenium), vitamin A, and folic acid should be ... Waters et al 1998 , Gjetting et al 2001 ]. References Published Guidelines / Consensus Statements Canadian Task Force on ...
  5. Serine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK592681
    ... are mildly ↑. ATP7A Menkes disease (See ATP7A -Related Copper Transport Disorders .) XL Infants w/classic Menkes disease ... posted live 24 October 2022 (svdc) Original submission References Literature Cited Abdelfattah F, Kariminejad A, Kahlert AK, ...
  6. DNAJC6 Parkinson Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK570369
    ... retinal degeneration, psychiatric symptoms, anemia, ↑ serum ferritin, ↓ serum copper, absent ceruloplasmin, liver iron storage; on MRI: features ... posted live 10 September 2020 (mak) Original submission References Literature Cited Blauwendraat C, Nalls MA, Singleton AB. ...
  7. RFC1 CANVAS / Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK564656
    ... Metabolic disorders (diabetes mellitus, vitamin B 12 deficiency, copper deficiency) Toxins (alcohol, pyridoxine, platinum derivatives, pyridoxine intoxication) ...
  8. FARS2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538658
    ... increased amounts of glycogen and lysosomal iron and copper. The neuropathologic brain findings of this child met ... posted live 9 November 2018 (ljw) Original submission References Literature Cited Almalki A, Alston CL, Parker A, ...
  9. Autosomal Dominant TRPV4 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK201366
    ... MOI Disorder ATP7A XL dSMA (See ATP7A -Related Copper Transport Disorders .) BICD2 AD Lower extremity-predominant SMA ( ... posted live 30 July 2013 (as) Original submission References Published Guidelines / Consensus Statements Committee on Bioethics, Committee ...
  10. GLB1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK164500
    ... dysarthria, dystonia Liver cirrhosis, liver failure, hypoparathyroidism, ↑ urinary copper, ↓ serum ceruloplasmin C9orf72 FUS SOD1 TARDBP (>30 genes) ... posted live 24 January 2013 (ct) Original submission References Literature Cited Abumansour IS, Yuskiv N, Paschke E, ...
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