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83 results
  1. 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 ... Following Initial Diagnosis To establish the extent of disease and needs ...
  2. Hereditary Fructose Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333439
    ... In addition to HFI, gastroesophageal reflux, pyloric stenosis, urea cycle ... muscular dystrophy ) has delayed diagnosis and/or initiation of treatment of HFI in ...
  3. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... with Neonatal Onset to Consider in the Differential Diagnosis of Multiple Acyl-CoA Dehydrogenase ... ASS1 Citrullinemia type I AR CPS1 Carbamoylphosphate ...
  4. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Start Here Metabolism (Nemours Foundation) Also in Spanish ... (National Urea Cycle Disorders Foundation) Genetics Acatalasemia: ...
  5. 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 ...
  6. 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 ...
  7. Ornithine translocase deficiency 
    https://medlineplus.gov/.../ornithine-translocase-deficiency
    ... V, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012 May 29;7: ... M, Dionisi-Vici C. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019 Nov; ...
  8. 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 ...
  9. SLC39A8-CDG - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590152
    ... CDG do not have abnormal VLCFAs. >20 genes Urea cycle disorders / organic acidemias (See Propionic Acidemia , Glutaric Acidemia Type ... Feeding intolerance DD/ID Spasticity Unlike persons w/urea cycle disorders / organic acidemias, persons w/SLC39A8-CDG do not ...
  10. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... of Neurological Disorders and Stroke) What Is a Urea Cycle Disorder? (National Urea Cycle Disorders Foundation) Genetics 2-hydroxyglutaric aciduria: MedlinePlus Genetics (National ...
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