2024
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Smith W, Berry S, Bloom K, Brown C, Burton B, Demarest O, Jenkins G, Malinowski J, McBride K, Mroczkowski H, Scharfe C, Vockley J, Board of Directors A. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine 2024, 27: 101289. PMID: 39630157, DOI: 10.1016/j.gim.2024.101289.Peer-Reviewed Original ResearchAmerican College of Medical Genetics and GenomicsRecent American College of Medical GeneticsPractice guidelinesEvidence-based clinical guidelinesEvidence-to-decision frameworkAmerican College of Medical GeneticsClinical practice guidelinesEvidence-based guidelinesPrevent pregnancy complicationsPhenylalanine hydroxylasePhenylalanine hydroxylase deficiencyIntellectual outcomeEvidence summaryStandard of careRecommendations AssessmentGuideline workgroupClinical guidelinesPregnancy complicationsSystematic reviewGenetic testingMedical GeneticsAmerican CollegeConfirm diagnosisPractice recommendationsPAH variants
1978
Phenylalanine hydroxylase in melanoma cells
Breakefield X, Castiglione C, Halaban R, Pawelek J, Shiman R. Phenylalanine hydroxylase in melanoma cells. Journal Of Cellular Physiology 1978, 94: 307-314. PMID: 23386, DOI: 10.1002/jcp.1040940308.Peer-Reviewed Original ResearchConceptsPhenylalanine hydroxylase activityHydroxylase activityMelanoma cellsMelanoma cell extractsS91 melanoma cellsCloudman S91 melanoma cellsP-chlorophenylalanineTyrosine hydroxylasePhenylalanine hydroxylaseTryptophan hydroxylaseHydroxylaseConversion of phenylalanineSensitive assayTyrosinase activityCellsLiver phenylalanine hydroxylaseCell extractsSodium dodecyl sulfate-polyacrylamide gel electrophoresisDodecyl sulfate-polyacrylamide gel electrophoresisSulfate-polyacrylamide gel electrophoresisLatter activityActivity
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