Skip to main content
U.S. flag

An official website of the United States government

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.

Search help
226 results
  1. PAH gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/pah
    ... PubMed Catalog of Genes and Diseases from OMIM PHENYLALANINE HYDROXYLASE; PAH Gene and Variant Databases NCBI Gene ClinVar References Blau N, Erlandsen H. The metabolic and molecular ...
  2. NLM Digital Collections - An Enzymatic Spectrophotometric Method for the Determination of Phenylalanine in Blood 
    Publication: C.V. Mosby Company, March 1960
    resource.nlm.nih.gov/101584910X143
    ... an accurate estimation of these amino acids and phenylalanine in normal serum. REFERENCES 1. Udenfriend, 8. and Cooper, J. R.: Assay of L-Phenylalanine as Phenylethylamine After Enzymatic Decarboxylation; Application to Isotopie ...
  3. FARS2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK538658
    ... Chromosome Locus Protein HGMD ClinVar FARS2 6p25 ​.1 Phenylalanine--tRNA ligase, mitochondrial FARS2 FARS2 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  4. Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK8828
    ... homozygous pathogenic missense variant in a highly conserved phenylalanine close to the active site ... Protein Change Reference Sequences c.564C>A p.Phe188Leu NM_001040167 ​. ...
  5. Phenylketonuria: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/phenylketonuria
    ... disease Folling's disease PAH deficiency Phenylalanine hydroxylase deficiency Phenylalanine hydroxylase ... References Blau N. Genetics of Phenylketonuria: Then and Now. ...
  6. Sepiapterin Reductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK304122
    ... Jacobson RD, Rost-Ruffner E, Trugman JM. Oral phenylalanine loading in dopa-responsive dystonia: a ... population. Pediatr Res. 1993; 34 :10–4. [ PubMed : ...
  7. Phenylketonuria | PKU | MedlinePlus 
    https://medlineplus.gov/phenylketonuria.html
    ... gov: Phenylketonurias (National Institutes of Health) ... Phenylketonuria -- see more ...
  8. NLM Digital Collections - Effects of Mechanical Shear on Genetic Activity of Bacillus subtilis DNA 
    Publication: National Academy of Sciences (U.S.), January 1963
    resource.nlm.nih.gov/101584906X862
    ... response 23 thr threonine 168 try” tryptophan SB19 Reference Prototroph —_ SB25 his; “try. histidine +- tryptophan SB70 his: “tyr — histidine + tyrosine SB130 his. ~aro.— histidine + tyrosine + phenylalanine + tryptophan SB137 his, ~arog7 histidine + shikimic acid SB148 ...
  9. Tyrosinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1515
    ... acids. Elevated plasma concentration of tyrosine, methionine, and phenylalanine Note: (1) Plasma tyrosine concentration in affected infants ... urine; elevated plasma concentrations of tyrosine, methionine, and phenylalanine; and elevated urinary concentration of tyrosine metabolites and ...
  10. NLM Digital Collections - Chemical warfare agents and related chemical problems (Parts 3-6) 
    Publication: Washington, D.C. : Office of Scientific Research and Development, National Defense Research Committe, Division 9, 1946
    resource.nlm.nih.gov/14111270RX2
    ... glycine, alanine, histidine, arginine, lysine, glutamic acid, serine, ... glycine as a reference compound (see page 403), it was noted that ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last