Results 1 -
10
of
215
for
2S -"2-[3-(amino methyl)PHENYL]-3-[(R)-[(1R)-1-{[(BENZYLOXY)CARBONYL]AMINO}-2-METHYLPROPYL](HYDROXY)phosphorus]propionic" ACID
- ... 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( ...
- ... 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 ...
- ... higher-than-normal levels of a substance called 2-oxoglutaric acid in their urine; these levels can fluctuate between ...
- ... instructions for making an enzyme called carnitine palmitoyltransferase 2. This enzyme is essential for fatty acid oxidation, which is the multistep process that breaks ...
- ... N. Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2). Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1105-11. doi: 10. ...
- ... LMNA-Related Congenital Muscular Dystrophy. Mol Ther Nucleic Acids. 2018 Mar 2;10:376-386. doi: 10.1016/j.omtn. ...
- ... 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
- ... 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 ...
- ... familial TAAD change single protein building blocks (amino acids) in the smooth muscle α-2 actin protein. These changes likely affect the way ...
- Glutaric acidemia type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed ...