Results 1 - 10 of 235 for 1S -"1-{[(4'-methoxy-1,1'-biphenyl-4-yl)sulfonyl]amino}-2-methylpropylphosphonic" acid
  1. ... Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect, type 1 Disease InfoSearch National Organization ...
  2. ... amino acid transport defect Genetic Testing Registry: Neutral 1 amino acid transport defect Hartnup disease Disease InfoSearch National Organization ... Sep;36(9):1003-7. Epub 2004 Aug 1. Citation on PubMed
  3. ... for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting ... to use proteins. Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ...
  4. ... 22211. Erratum in: Ann Neurol. 2011 Jul;70(1):187. Citation on PubMed
  5. ... recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes fats called long-chain fatty acids from certain proteins, which helps to break down ...
  6. ... K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome. BMC ...
  7. ... severe malnutrition and generally do not survive past 1 year.In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms vary and usually ...
  8. ... gene mutations change single protein building blocks (amino acids) in the PRPP synthetase 1 enzyme, resulting in a poorly regulated, overactive enzyme. ...
  9. ... key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called N-acetylated amino acids, in the urine. ...
  10. ... Haley CS. Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid. Hum Mol Genet. 2014 Oct 1;23(19): ...
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