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Results 1 - 10 of 237 for 1S -"1-{[(4'-methoxy-1,1'-biphenyl-4-yl)sulfonyl]amino}-2-methylpropylphosphonic" acid
  1. Congenital bile acid synthesis defect type 1 
    ... Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 National Organization for Rare ... deficiency. J Pediatr Gastroenterol Nutr. 2010 Jan;50(1):61-6. doi: 10.1097/MPG.0b013e3181b47b34. Citation on PubMed
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. Hartnup disease 
    ... amino acid transport defect Genetic Testing Registry: Neutral 1 amino acid transport defect Hartnup disease National Organization for Rare ... 7. doi: 10.1038/ng1406. Epub 2004 Aug 1. Citation on PubMed
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  3. Lysinuric protein intolerance 
    ... for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting ... and use proteins. Variants in the y+LAT-1 protein disrupt the transportation of lysine, arginine, and ornithine. As a result, these amino acids are not absorbed by cells in the small ...
    https://medlineplus.gov/.../condition/lysinuric-protein-intolerance - Genetics
  4. Fatty acid hydroxylase-associated neurodegeneration 
    ... available. Erratum In: Ann Neurol. 2011 Jul;70(1):187. Citation on PubMed
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  5. CLN1 disease 
    ... recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes fats called long-chain fatty acids from certain proteins, which helps to break down ...
    https://medlineplus.gov/genetics/condition/cln1-disease - Genetics
  6. Smith-Magenis syndrome 
    ... K. Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome. BMC ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  7. Lysosomal acid lipase deficiency 
    ... 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 ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  8. Aminoacylase 1 deficiency 
    ... 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. ...
    https://medlineplus.gov/genetics/condition/aminoacylase-1-deficiency - Genetics
  9. Gout 
    ... 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): ...
    https://medlineplus.gov/genetics/condition/gout - Genetics
  10. Atelosteogenesis type 1 
    ... cartilage.FLNB gene mutations that cause atelosteogenesis type 1 change single protein building blocks (amino acids) in the filamin B protein or delete a ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
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