Compounds > phenylalanine

phenylalanine and Genetic Diseases

phenylalanine has been researched along with Genetic Diseases in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19903 (42.86)18.7374
1990's3 (42.86)18.2507
2000's0 (0.00)29.6817
2010's1 (14.29)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Belanger, AM; Cheng, SH; Furgerson, M; Gefteas, E; Geller, S; Kloss, A; Przybylska, M; Yew, NS; Zhu, Y1
Blau, N; Heizmann, CW; Leimbacher, W; Stuhlmann, H; Thöny, B1
Deymeer, F; Fleischhauer, R; Lehmann-Horn, F; Lerche, H; Mitrovic, N1
Arnold, LA; Hyland, K; Nygaard, TG; Sparagana, SP; Swoboda, KJ; Trugman, JM1
Knapp, A1
Bailey, IV; Doherty, LB; Levy, HL; Rohr, FJ; Waisbren, SE1
Vis, HL1

Other Studies

7 other study(ies) available for phenylalanine and Genetic Diseases

ArticleYear
Inhibiting neutral amino acid transport for the treatment of phenylketonuria.
    JCI insight, 2018, 07-26, Volume: 3, Issue:14

    Topics: Amines; Amino Acid Transport Systems, Neutral; Amino Acids, Neutral; Animals; Astrocytes; Biological Transport; Brain; Disease Models, Animal; Female; Gene Expression Regulation; Genetic Diseases, Inborn; Kidney Tubules, Proximal; Male; Memory, Short-Term; Mice; Mice, Knockout; Morpholinos; Oligonucleotides; Phenylalanine; Phenylketonurias; Renal Reabsorption

2018
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
    Human gene therapy, 1996, Aug-20, Volume: 7, Issue:13

    Topics: Alcohol Oxidoreductases; beta-Galactosidase; Biopterins; Blotting, Western; Cytokines; Fibroblasts; Gene Transfer Techniques; Genes, Reporter; Genetic Diseases, Inborn; Genetic Therapy; Genetic Vectors; Humans; Neopterin; Phenylalanine; Phosphorus-Oxygen Lyases; Retroviridae; Transfection

1996
Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
    Pflugers Archiv : European journal of physiology, 1998, Volume: 436, Issue:5

    Topics: Amino Acid Substitution; Biological Transport; Cell Line; Embryo, Mammalian; Genetic Diseases, Inborn; Humans; Ion Channel Gating; Kidney; Mexiletine; Muscle, Skeletal; Mutation; Myotonia; Phenylalanine; Serine; Sodium Channel Blockers; Sodium Channels; Temperature; Transfection

1998
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.
    Journal of inherited metabolic disease, 1999, Volume: 22, Issue:3

    Topics: Administration, Oral; Dopamine; Dystonia; Genetic Diseases, Inborn; GTP Cyclohydrolase; Heterozygote; Humans; Phenylalanine; Tyrosine

1999
[Problems and results of screening tests in genetic disorders].
    Zeitschrift fur arztliche Fortbildung, 1978, Jun-15, Volume: 72, Issue:11-12

    Topics: Cystic Fibrosis; Galactosemias; Genetic Diseases, Inborn; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pilot Projects; Risk

1978
The New England Maternal PKU Project: identification of at-risk women.
    American journal of public health, 1988, Volume: 78, Issue:7

    Topics: Adolescent; Adult; Child; Epidemiologic Methods; Female; Genetic Diseases, Inborn; Health; Humans; Maternal-Child Health Centers; Medical Records; New England; Phenylalanine; Phenylketonurias; Pregnancy; Pregnancy Complications; Pregnant Women; Risk Factors

1988
[Problems in the detection of hereditary diseases studied in the light of frequent examples].
    Bruxelles medical, 1972, Volume: 52, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography; Clinical Enzyme Tests; Escherichia coli; Fluorometry; Genetic Diseases, Inborn; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methods; Phenylalanine; Phenylketonurias; Urine

1972