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153 results

  1. Koolen-de Vries Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK24676
    ... histone acetyltransferase MOF, which acetylates histone H4 on lysine 16 (H4K16ac) to facilitate transcriptional activation [ Mendjan et ... MG, Klionsky DJ, Joseph B. The histone H4 lysine 16 acetyltransferase hMOF regulates the outcome of autophagy. ...
  2. Citrullinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1458
    ... range (see Urea Cycle Disorders Overview Figure 3 ). Lysine, glutamine, and alanine concentrations are increased; these are ...
  3. Classic Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1244
    ... MOI = mode of inheritance 1. Glutamic acid to lysine substitutions in COL3A1 have been reported in individuals ... Dijk FS. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent ...
  4. Amino acids 
    https://medlineplus.gov/ency/article/002222.htm
    ... 9 essential amino acids are: histidine, isoleucine, leucine, lysine, methionine, phenylalanine, threonine, tryptophan , and valine. NONESSENTIAL AMINO ...
  5. Classic Isovaleric Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK601614
    ... deficiency AR Hyperammonemia ↑ citrulline, arginine, methionine, threonine, tyrosine, & lysine in plasma ↑ liver enzymes 1, 4 SLC25A15 Hyperornithinemia- ...
  6. Plasma amino acids 
    https://medlineplus.gov/ency/article/003361.htm
    ... Children: 70 to 170 Adults: 66 to 170 Lysine: Children: 120 to 290 Adults: 150 to 220 ...
  7. ELN-Related Cutis Laxa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584550
    ... variant results in exclusion of exon 25, containing lysine residues important for elastin crosslinking. Alternatively, if exon ...
  8. Aminoaciduria 
    https://medlineplus.gov/ency/article/003366.htm
    ... Isoleucine: 30 to 186 Leucine: 1 to 9 Lysine: 2 to 16 Methionine: 2 to 53 Ornithine: ...
  9. TNXB-Related Classical-Like Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584019
    ... Dijk FS. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent ...
  10. Molybdenum Cofactor Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575630
    ... include phenylalanine, valine, threonine, tryptophan, methionine, leucine, isoleucine, lysine, and histidine Agents/Circumstances to Avoid Valproate should ...
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