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  1. Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1504
    ... inborn errors of metabolism, such as glycogen storage disorders and urea cycle defects. Research continues to identify the best ways ...
  2. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... Figure 1 ), and for citrulline utilization in the urea cycle, with consequent amelioration of hyperammonemia. Aspartate is also important in purine synthesis. Mechanism of disease causation. Loss of PC protein function may occur ...
  3. Chronic Granulomatous Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99496
    ... associated with ornithine transcarbamylase deficiency (OTC) leading to urea cycle ... granulomatous disease (CGD) mainly involves disorders with recurrent or unusual ...
  4. Fumarate Hydratase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1506
    ... isoform of FH metabolizes fumarate produced in the urea cycle, in the purine ... of disease causation. Loss of function. Based on genotypes observed ...
  5. Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK66038
    ... standardized mortality ratio, 3.9 for advanced-stage disease) were the leading causes of ... levels within reference range; however, 82% of women younger than 30 ...
  6. Fructose-1,6-Bisphosphatase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550349
    ... on MS/MS. Mitochondrial respiratory chain and Krebs cycle disorders. Mitochondrial respiratory chain disorders are a heterogeneous group ... distinctive elevation of fumaric acid or other Krebs cycle intermediates, reflecting the site of the enzyme deficiency. See ... Following Initial Diagnosis To establish ...
  7. Childhood Non-Hodgkin Lymphoma Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65738
    ... with folliculotropic mycosis fungoides) progressed to advanced-stage disease. References Alaggio R, Amador C, Anagnostopoulos I, et al.: ...
  8. Creatine Deficiency Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... Rizzo C, Dionisi-Vici C. Creatine metabolism in urea cycle defects. J Inherit Metab Dis. 2012; 35 :647– ... intervals of urinary markers for cerebral creatine deficiency disorders: a novel approach to the definition of reference intervals. Clin Chem. 2015; 61 :760–8. [ PubMed : ...
  9. Carnitine-Acylcarnitine Translocase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK582032
    ... to ↓ acetyl-CoA & therefore NAG (essential in the urea cycle). 11 High dietary carbohydrate intake appears necessary to ... GeneReview Summary Diagnosis Clinical Characteristics Genetically Related (Allelic) ... Download Bulk download GeneReviews data from FTP ...
  10. Late Effects of Treatment for Childhood Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65832
    ... Survivors of Childhood, Adolescent, and Young Adult Cancers . References Centers for Disease Control and Prevention: Altered immunocompetence. In: Kroger A, ...
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