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  1. 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 ...
  2. Phenylalanine Hydroxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1504
    ... PAH 12q23 ​.2 Phenylalanine-4-hydroxylase PAH database Phenylalanine Hydroxylase Gene Locus-Specific Database - PAHvdb PAH PAH Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. 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 ... in a pediatric reference population. Pediatr Res 1993;34:10-4. [ PubMed : ...
  4. Tyrosinemia Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608431
    ... a cure . —ED Restriction of dietary tyrosine and phenylalanine. Targeted therapy for tyrosinemia type II aims to ...
  5. 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 ...
  6. Clinical evidence – search strategies - Challenging Behaviour and Learning Disabilities - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK355386
    ... or syndrome$)) or mckusick 26160 or oligophrenia or (phenylalanine adj4 monooxygenase deficiency syndrome) or hydroxylase deficiency syndrome ... or syndrome*)) or “mckusick 26160” or oligophrenia or (phenylalanine near/1 “4 monooxygenase deficiency syndrome”) or “hydroxylase ...
  7. Maple Syrup Urine Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1319
    ... concentration ratios of (leucine + isoleucine) to alanine and phenylalanine that are above the cutoff values for the ... the ratios of (leucine + isoleucine) to alanine and phenylalanine concentrations on dry blood spots. A positive screening ...
  8. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Amish ... 
    https://www.ncbi.nlm.nih.gov/books/NBK558237
    ... 014625 ​.4 NP_055440 ​.1 Puffenberger [2021] PAH Phenylalanine hydroxylase deficiency AR c.1066-11G>A (IVS10- ... Mochal S, Baker M. Genotypes of patients with phenylalanine hydroxylase deficiency in the Wisconsin Amish. Mol Genet ...
  9. Phenylketonuria | PKU | MedlinePlus 
    https://medlineplus.gov/phenylketonuria.html
    ... you have it, your body can't process phenylalanine (Phe). Phe is an amino acid, a building ... Handouts Phenylketonuria (Medical Encyclopedia) Also in Spanish Serum phenylalanine screening (Medical Encyclopedia) Also in Spanish Topic Image ...
  10. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name><other_name >PKU</other_name><other_name >Phenylalanine hydroxylase deficiency</other_name><other_name >Phenylalanine hydroxylase deficiency disease</other_name></other_names></topic>< ...
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