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  1. What is it like to research a rare disease? | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...-like-to-research-a-rare-disease
    ... is it like to research a rare disease? Urea cycle disorder principal investigator shares her experience Andrea L. Gropman, ... the disorder for 14 years. What is a urea cycle disorder? A urea cycle disorder results from an inability ...
  2. Zoey’s story: One family’s experience with a rare disease | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...s-experience-with-a-rare-disease
    ... One family’s experience with a rare disease Undiagnosed urea cycle disorder takes life of college student In 2015, college ... body, which led to a fatal coma. Discovering urea cycle disorder After Zoey passed away, her parents made the ...
  3. 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 75 South Grand Avenue Pasadena CA 91105 ... IMD) www.e-imd.org/en/index.phtml Urea Cycle Disorder International Patient Registry Phone: 626-578-0833 Fax: ...
  4. Hereditary urea cycle abnormality 
    https://medlineplus.gov/ency/article/000372.htm
    ... with this waste-removal process. People with a urea cycle disorder have a defective gene that makes the enzymes ... drinks, and get enough fluids. Most people with urea cycle disorders will need to stay in the hospital at ...
  5. 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 ...
  6. Episodic Ataxia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1501
    ... type 1 ), argininosuccinase deficiency , and arginase deficiency . See Urea Cycle Disorders Overview . The identification of a significantly elevated blood ... sodium phenylacetate/sodium benzoate; long-term treatment of urea cycle disorders generally includes a high-calorie, low-protein diet ...
  7. 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 ...
  8. PMM2-CDG (CDG-Ia) - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... disorders, Zellweger syndrome spectrum Urea cycle defects (see Urea Cycle Disorders Overview ) Management Evaluations Following Initial Diagnosis To establish ...
  9. Supporting rare disease research at NIH | NIH MedlinePlus Magazine 
    https://magazine.medlineplus.gov/...ing-rare-disease-research-at-nih
    ... Rare Diseases Rare Diseases Clinical Research Network National Urea Cycle Disorders Foundation What’s Cooking? Find tasty and heart-healthy ...
  10. NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481554
    ... syndrome (see MECP2 Disorders ), Smith-Lemli-Opitz syndrome , urea cycle disorders [ Molero-Luis et al 2013 , Ng et al ...
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