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  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. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 875 Tyrosinemias C10.228.140.163.100.937 Urea Cycle Disorders, Inborn C10.228.140.163.100.937.124 ... 100.880 Tyrosinemias C16.320.565.100.940 Urea Cycle Disorders, Inborn C16.320.565.100.940.124 Argininosuccinic ...
  8. 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; ...
  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. Ornithine transcarbamylase deficiency 
    https://medlineplus.gov/.../ornithine-transcarbamylase-deficiency
    ... Helman G, Pacheco-Colon I, Gropman AL. The urea cycle disorders. Semin Neurol. 2014 Jul;34(3):341-9. doi: 10.1055/s-0034-1386771. Epub 2014 Sep 5. Citation on PubMed
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