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  1. 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 ...
  2. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... 1, 4 CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview .) AR Hyperammonemia Low citrulline in plasma Normal/ ... 1, 4 NAGS N-acetylglutamate synthase deficiency (See Urea Cycle Disorders Overview .) AR Hyperammonemia Low citrulline in plasma Normal/ ...
  3. 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 ...
  4. Metabolic Disorders 
    https://medlineplus.gov/metabolicdisorders.html
    ... Genetic and Rare Diseases Information Center) Overview of Urea Cycle Disorders (National Urea Cycle Disorders Foundation) Genetics Acatalasemia: MedlinePlus ...
  5. Genetic Brain Disorders | MedlinePlus 
    https://medlineplus.gov/geneticbraindisorders.html
    ... Institute of Neurological Disorders and Stroke) Overview of Urea Cycle Disorders (National Urea Cycle Disorders Foundation) Genetics 2-hydroxyglutaric ...
  6. 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 ...
  7. 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 ...
  8. xmlmplus_topics_2025-07-25.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-07-25.xml
    ... site ><information-category >Specifics</information-category><organization >National Urea Cycle Disorders Foundation</organization><standard-description >Video</standard-description></site>< ...
  9. Hereditary Fructose Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333439
    ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders XL AR ATP7B Wilson disease AR BCKDHA BCKDHB ... In addition to HFI, gastroesophageal reflux, pyloric stenosis, urea cycle disorders , or galactose epimerase deficiency should be considered in ...
  10. Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1424
    ... of fatty acid beta-oxidation, defects in ketogenesis, urea cycle disorders , organic acidurias, respiratory chain defects, and inborn errors ... ARG1 ASL ASS1 CPS1 NAGS OTC SLC25A13 SLC25A15 Urea cycle disorders (NAGS, CPS1, OTC , ASS1 , ASL , ARG1 , ORNT1 , & citrin ...
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