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Results 1 - 10 of 215 for 2S -"2-[3-(AMINOMETHYL)PHENYL]-3-[(R)-HYDROXY{(1R)-2-METHYL-1-[(PHENYLSULFONYL)AMINO]PROPYL}PHOSPHORYL]PROPANOIC" ACID
Did you mean 2S -"2-[3-(amino methyl)PHENYL]-3-[(R)-HYDROXY{(1R)-2-METHYL-1-[(PHENYLSULFONYL)AMINO]PROPYL}phosphorus]propionic" ACID?
  1. Congenital bile acid synthesis defect type 2 
    ... Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 National Organization for Rare ... NORD) ClinicalTrials.gov BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2; CBAS2 ... PubMed Clayton PT. Disorders of bile acid synthesis. J Inherit Metab Dis. 2011 Jun;34( ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  2. Fatty acid hydroxylase-associated neurodegeneration 
    ... point on a fatty acid to create a 2-hydroxylated fatty acid. Certain 2-hydroxylated fatty acids are important in forming normal myelin; myelin is ... reduce or eliminate the function of the fatty acid 2-hydroxylase enzyme. Reduction of this enzyme's function ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  3. DOORS syndrome 
    ... higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  4. Carnitine palmitoyltransferase II deficiency 
    ... instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks ...
    https://medlineplus.gov/...nitine-palmitoyltransferase-ii-deficiency - Genetics
  5. Renal hypouricemia 
    ... N. Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1105-11. doi: 10. ...
    https://medlineplus.gov/genetics/condition/renal-hypouricemia - Genetics
  6. LMNA-related congenital muscular dystrophy 
    ... LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids. 2018 Mar 2;10:376-386. doi: 10.1016/j.omtn. ...
    https://medlineplus.gov/...mna-related-congenital-muscular-dystrophy - Genetics
  7. Distal myopathy 2 
    ... gene mutation identified in people with distal myopathy 2 changes a single protein building block (amino acid) in the matrin 3 protein. The effect of this mutation on the function of the protein is unknown, although one study suggests that the mutation may change the ... Distal myopathy 2 is inherited in an ...
    https://medlineplus.gov/genetics/condition/distal-myopathy-2 - Genetics
  8. Sialic acid storage disease 
    ... sialic acid. Mol Genet Metab. 2005 Jun;85(2):85-7. doi: 10.1016/j.ymgme.2005.04.005. No abstract available. Citation on PubMed
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  9. Familial thoracic aortic aneurysm and dissection 
    ... familial TAAD change single protein building blocks (amino acids) in the smooth muscle α-2 actin protein. These changes likely affect the way ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  10. Glutaric acidemia type I 
    ... glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab. 2011 Sep-Oct;104(1-2):93-106. doi: 10.1016/j.ymgme.2011. ...
    https://medlineplus.gov/genetics/condition/glutaric-acidemia-type-i - Genetics
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