urocanic acid and Amino Acid Metabolism Disorders, Inborn

urocanic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-19909 (60.00)18.7374
1990's3 (20.00)18.2507
2000's2 (13.33)29.6817
2010's1 (6.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Artuch, R; Espinós, C; Lupo, V; Martínez-Rubio, D; Ormazabal, A; Palau, F; Pineda, M; Spaapen, LJ; Vilaseca, MA1
Barresi, C; Eckhart, L; Ghannadan, M; Kammeyer, A; Kezic, S; Mlitz, V; Posa-Markaryan, K; Selden, C; Stremnitzer, C; Tschachler, E1
Asai, K; Coleman-Campbell, CM; Kawai, Y; Morishita, H; Moriyama, A; Suchi, M; Sumi, S1
Dumic, M; Jezerinac, Z; Juretic, D; Kalafatic, Z; Lipovac, K; Res, L; Zurga, B1
Maesaka, H; Suwa, S; Tokuhiro, E; Yokoya, S1
Aoki, K; Eto, Y; Ito, F; Ota, H1
Jäckel, R; Mönch, E; Weissenbach-Wollweber, M1
Nikolaeva, EA1
Alm, J; Holmgren, G; Larsson, A; Schimpfessel, L1
Eguchi, T; Fujitaka, M; Sakura, N; Ueda, K1
Imaeda, M; Wada, Y1
Schön, R2
Ergebnisse, E1
Levy, HL; McInnes, RR; Taylor, RG1

Reviews

3 review(s) available for urocanic acid and Amino Acid Metabolism Disorders, Inborn

ArticleYear
[Histidenemia (a review of the literature)].
    Voprosy okhrany materinstva i detstva, 1980, Volume: 25, Issue:1

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Animals; Child; Child, Preschool; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Infant; Infant, Newborn; Intellectual Disability; Mass Screening; Polymorphism, Genetic; Pregnancy; Speech Disorders; Urocanic Acid

1980
[Urocanic aciduria (urocanase deficiency)].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Histidine; Humans; Prognosis; Urocanate Hydratase; Urocanic Acid

1998
Histidase and histidinemia. Clinical and molecular considerations.
    Molecular biology & medicine, 1991, Volume: 8, Issue:1

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Molecular Sequence Data; Neonatal Screening; Phenylalanine Ammonia-Lyase; Skin; Urocanic Acid

1991

Other Studies

12 other study(ies) available for urocanic acid and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
    Journal of medical genetics, 2009, Volume: 46, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ataxia; Biomarkers; Child; Computer Simulation; Female; Folic Acid; Histidine; Humans; Intellectual Disability; Models, Molecular; Molecular Sequence Data; Mutation; Sequence Alignment; Urocanate Hydratase; Urocanic Acid

2009
Increased sensitivity of histidinemic mice to UVB radiation suggests a crucial role of endogenous urocanic acid in photoprotection.
    The Journal of investigative dermatology, 2011, Volume: 131, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Apoptosis; DNA Damage; Epidermis; Histidine Ammonia-Lyase; Intellectual Disability; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Phenotype; Pyrimidine Dimers; Ultraviolet Rays; Urocanic Acid

2011
Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.
    Human genetics, 2005, Volume: 116, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Base Sequence; Histidine; Histidine Ammonia-Lyase; Humans; Infant, Newborn; Molecular Sequence Data; Mutation, Missense; Polymorphism, Genetic; Urocanic Acid

2005
A liver urocanase deficiency.
    Metabolism: clinical and experimental, 1980, Volume: 29, Issue:11

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Female; Formiminoglutamic Acid; Histidine; Histidine Ammonia-Lyase; Humans; Hydro-Lyases; Imidazoles; Liver; Male; Skin; Urocanate Hydratase; Urocanic Acid

1980
Measurement of the skin urocanic acid content in normal and histidinemic infants.
    European journal of pediatrics, 1983, Volume: 140, Issue:4

    Topics: Adolescent; Adult; Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Humans; Imidazoles; Infant; Infant, Newborn; Male; Photometry; Reference Values; Skin; Urocanic Acid

1983
Urocanic acid contents in histidinaemic infant and developing rat epidermis.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Epidermis; Histidine; Histidine Ammonia-Lyase; Humans; Imidazoles; Infant; Rats; Urocanic Acid

1981
[Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1983, Volume: 131, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia-Lyases; Chromatography, Thin Layer; Histidine; Histidine Ammonia-Lyase; Humans; Skin; Urocanic Acid

1983
Histidinaemia in Sweden. Report on a neonatal screening programme.
    Clinical genetics, 1981, Volume: 20, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Histidine; Humans; Infant, Newborn; Mass Screening; Sweden; Urocanic Acid

1981
Measurement of histidase activity in human fingernail by reversed-phase HPLC.
    Clinica chimica acta; international journal of clinical chemistry, 1993, Jun-16, Volume: 215, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, High Pressure Liquid; Histidine; Histidine Ammonia-Lyase; Humans; Nails; Urocanic Acid

1993
[Newborn mass-screening programme for histidinaemia: increased efficiency through selective thin-layer chromatography (author's transl)].
    Wiener klinische Wochenschrift, 1977, May-13, Volume: 89, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Thin Layer; Histidine; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Urocanic Acid

1977
[Mass screening for histidinaemia:rationalization by selective thin layer chromatography. First results].
    Monatsschrift fur Kinderheilkunde, 1976, Volume: 129, Issue:9

    Topics: Amino Acid Metabolism, Inborn Errors; Austria; Chromatography, Thin Layer; Histidine; Humans; Imidazoles; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Urocanic Acid

1976
[A routine method for thin layer chromatographic determination of urocanic acid in blood samples impregnated on filter paper cards (author's transl)].
    Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1976, Volume: 14, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Chromatography, Thin Layer; Histidine; Humans; Imidazoles; Infant, Newborn; Mass Screening; Urocanic Acid

1976