Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 244 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. 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
  5. 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
  6. Aromatic l-amino acid decarboxylase deficiency 
    ... Orphanet J Rare Dis. 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. Citation on PubMed
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  7. Thiamine-responsive megaloblastic anemia syndrome 
    ... an abnormally short, nonfunctional version of thiamine transporter 1. Other variants change single protein building blocks (amino acids) in thiamine transporter 1. All of these variants ...
    https://medlineplus.gov/...-responsive-megaloblastic-anemia-syndrome - Genetics
  8. 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
  9. 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
  10. 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
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next