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996 results
  1. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... ucdfamily.org National Library of Medicine Genetics Home Reference Ornithine translocase deficiency National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Metabolic ...
  2. Urea Cycle Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1217
    ... in Family Members Resources Acute Management of a Urea Cycle Disorder Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  3. Argininosuccinate Lyase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51784
    ... posted live 31 August 2010 (ae) Original submission References Published Guidelines / Consensus Statements Urea Cycle Disorders Conference Group. Consensus statement from a conference for ...
  4. Ammonia Levels: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/ammonia-levels
    ... about laboratory tests, reference ranges, and understanding results . References Ah Mew N, Simpson KL, Gropman AL, et al. Urea Cycle Disorders Overview. 2003 Apr 29 [Updated 2017 Jun 22; ...
  5. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... is the last (most distal) enzyme in the urea cycle. Mechanism of disease causation. Loss-of-function variants cause arginase deficiency. Table 9. Notable ARG1 Pathogenic Variants View in own window Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...
  6. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... posted live 9 February 2004 (jt) Original submission ... of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32. [ PubMed ] ...
  7. Carbonic Anhydrase VA Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK284774
    ... who specializes in the diagnosis and treatment of urea cycle defects and related disorders with ... Cited Diez-Fernandez C, Rüfenacht V, Santra ...
  8. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... Parents LEarning) United Kingdom Ornithine transcarbamylase deficiency National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Connecting ...
  9. Lysinuric Protein Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1361
    ... For information on selection criteria, click here . National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org Metabolic ... United Kingdom Phone: 0845 241 2173 metabolicsupportuk.org Urea Cycle Disorders Consortium Phone: 202-306-6489 Email: jseminar@childrensnational. ...
  10. Propionic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK92946
    ... L [ Kölker et al 2015a ]. In contrast to urea cycle disorders, hyperammonemia in PA is usually accompanied by low ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders AR XL 5 Hyperammonemia in neonatal PA can ...
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