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42 results
  1. Arginase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1159
    ... risk for hyperammonemia but (in contrast to other urea cycle disorders) is rarely necessary in arginase deficiency; see also Table 3 . Prevention of Secondary Complications Table 7. Prevention of Secondary ...
  2. Ornithine Transcarbamylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK154378
    ... life- threatening hyper- ammonemic crisis Liver ... for treatment of seizures in urea cycle disorders, as it can cause a hyperammonemic crisis. ...
  3. Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK97260
    ... 2008 , Martinelli et al 2015 ] A hyperammonemia or urea cycle disorder multigene panel that includes SLC25A15 and other genes ... information on selection criteria, click here . Connecting Families - Urea Cycle Disorders (UCD) Foundation Phone: 918-490-3055 ucdfamily.org ...
  4. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... exon and whole-gene deletions or duplications. A urea cycle disorders / hyperammonemia multigene panel that includes ASS1 and other ... on selection criteria, click here . MedlinePlus Citrullinemia National Urea Cycle Disorders Foundation Phone: 626-578-0833 nucdf.org British ...
  5. 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. ...
  6. 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 ...
  7. Public-Private Partnerships - Registries for Evaluating Patient Outcomes - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK208633
    ... in own window Description The Longitudinal Study of Urea Cycle Disorders is operated by the Urea Cycles Disorder Consortium (UCDC). Its primary purpose is to collect ...
  8. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... closely resemble those of hepatic encephalopathy or genetic urea cycle disorders, including nocturnal delirium, aberrant behaviors (aggression, irritability, and ...
  9. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... P. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J Inherit Metab ... A. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. J Inherit ...
  10. xmlmplus_topics_2025-05-14.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-05-14.xml
    ... site ><information-category >Specifics</information-category><organization >National Urea Cycle Disorders Foundation</organization></site><site ><information-category >Genetics</information- ...
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