Page last updated: 2024-10-20

urea and Phenylketonurias

urea has been researched along with Phenylketonurias in 24 studies

pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.

Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Research

Studies (24)

TimeframeStudies, this research(%)All Research%
pre-199016 (66.67)18.7374
1990's2 (8.33)18.2507
2000's2 (8.33)29.6817
2010's0 (0.00)24.3611
2020's4 (16.67)2.80

Authors

AuthorsStudies
Scheinin, M1
Junnila, J1
Reiner, G1
MacDonald, A2
Muntau, AC1
Hosseini, E1
Mousavi, SS1
Zamanfar, D1
Hashemi-Soteh, SMB1
Daly, A1
Evans, S1
Pinto, A1
Jackson, R1
Ashmore, C1
Rocha, JC1
Conde-Giménez, M1
Sancho, J1
Weigel, C1
Rauh, M1
Kiener, C1
Rascher, W1
Knerr, I1
Bachmann, C1
Godin, C1
Dolan, G1
Nyhan, WL1
Naylor, EW1
Grasso, AW1
Wu, GY1
Snyderman, SE1
Omenn, GS1
Hermann, ME1
Mönch, E1
Reinbacher, M1
Kohlen, W1
Brösicke, HG1
Okano, Y1
Chow, IZ1
Isshiki, G1
Inoue, A1
Oura, T1
Chang, TM1
Antoshechkin, AG1
Maximova, LA1
Irons, M1
Levy, HL1
Martin, JJ2
Schlote, W2
Hooft, C1
Carton, D1
O'Reilly, S1
Berkó, G1
Durkó, I1
Menkes, JH1
Heathcote, JG1
Davies, DM1
Haworth, C1
Oliver, RW1

Reviews

5 reviews available for urea and Phenylketonurias

ArticleYear
Understanding inherited metabolic disease.
    Clinical symposia (Summit, N.J. : 1957), 1980, Volume: 32, Issue:5

    Topics: Amniocentesis; Carboxy-Lyases; Female; Genetic Carrier Screening; Homocystinuria; Humans; Infant, Ne

1980
Therapeutic implications of delivery and expression of foreign genes in hepatocytes.
    Advances in pharmacology (San Diego, Calif.), 1994, Volume: 28

    Topics: alpha 1-Antitrypsin; alpha 1-Antitrypsin Deficiency; Animals; Gene Transfer Techniques; Genetic Ther

1994
The dietary therapy of inherited metabolic disease.
    Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8

    Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C

1975
Inborn errors of metabolism: clues to understanding human behavioral disorders.
    Behavior genetics, 1976, Volume: 6, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter

1976
Metabolic syndromes with dermatologic manifestations.
    Clinical reviews in allergy, 1986, Volume: 4, Issue:1

    Topics: Albinism; Alkaptonuria; Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biotinid

1986

Trials

1 trial available for urea and Phenylketonurias

ArticleYear
Nitrogen Balance after the Administration of a Prolonged-Release Protein Substitute for Phenylketonuria as a Single Dose in Healthy Volunteers.
    Nutrients, 2021, Sep-14, Volume: 13, Issue:9

    Topics: Adolescent; Adult; Amino Acids; Amino Acids, Essential; Blood Urea Nitrogen; Cross-Over Studies; Del

2021

Other Studies

18 other studies available for urea and Phenylketonurias

ArticleYear
Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.
    Clinical laboratory, 2022, Jan-01, Volume: 68, Issue:1

    Topics: Gene Frequency; Genetics, Population; Humans; Infant, Newborn; Iran; Mutation; Phenylalanine Hydroxy

2022
Preliminary Investigation to Review If a Glycomacropeptide Compared to L-Amino Acid Protein Substitute Alters the Pre- and Postprandial Amino Acid Profile in Children with Phenylketonuria.
    Nutrients, 2020, Aug-14, Volume: 12, Issue:8

    Topics: Adolescent; Age Factors; Amino Acids; Caseins; Child; Child, Preschool; Female; Humans; Insulin; Mal

2020
Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase.
    International journal of molecular sciences, 2021, Jun-18, Volume: 22, Issue:12

    Topics: Binding Sites; Calorimetry, Differential Scanning; Catalytic Domain; Humans; Molecular Docking Simul

2021
Effects of various dietary amino acid preparations for phenylketonuric patients on the metabolic profiles along with postprandial insulin and ghrelin responses.
    Annals of nutrition & metabolism, 2007, Volume: 51, Issue:4

    Topics: Administration, Oral; Adult; Amino Acids; Area Under Curve; Dietary Carbohydrates; Dietary Fats; Fem

2007
Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation.
    Journal of inherited metabolic disease, 2008, Volume: 31, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Chemistry; Cell Compartmentation; Fo

2008
Tryptophan metabolism in normal and phenylketonuric rats.
    Biochimica et biophysica acta, 1966, Dec-28, Volume: 130, Issue:2

    Topics: Animals; Carbon Dioxide; Carbon Isotopes; Humans; Indoleacetic Acids; Injections, Intravenous; Kynur

1966
Newborn screening for urea cycle disorders.
    Advances in experimental medicine and biology, 1982, Volume: 153

    Topics: Amino Acid Metabolism, Inborn Errors; Argininosuccinic Aciduria; Bacillus subtilis; Biological Assay

1982
[Phenylalanine-free amino acid mixture: metabolic effects in relation to a single dose].
    Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1991, Volume: 139, Issue:10

    Topics: Adult; Amino Acids; Blood Glucose; Child; Dose-Response Relationship, Drug; Female; Food, Formulated

1991
Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria.
    Journal of inherited metabolic disease, 1986, Volume: 9, Issue:1

    Topics: Animals; Brain; Carbon Radioisotopes; Disease Models, Animal; Female; Fenclonine; Fetal Heart; Fetus

1986
Medical applications of artificial cells in transfusion, phenylketonuria, essential amino acid production, and liver support.
    Annals of the New York Academy of Sciences, 1988, Volume: 542

    Topics: Amino Acids, Essential; Ammonia; Artificial Organs; Biomedical Engineering; Blood Substitutes; Blood

1988
Discovery of methoxyacetylcarbamide in the urine of normal adults and phenylketonuric children.
    Clinica chimica acta; international journal of clinical chemistry, 1988, Oct-31, Volume: 177, Issue:3

    Topics: Adult; Child, Preschool; Gas Chromatography-Mass Spectrometry; Humans; Phenylketonurias; Urea

1988
Neuropathological study of aminoacidurias.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Gl

1972
Pediatric clinical aspects of aminoacidopathies.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Arginine; Child; Child, Preschool; Female; Homocy

1972
Neurologic disorders and liver disease.
    Postgraduate medicine, 1971, Volume: 50, Issue:3

    Topics: Adipose Tissue; Ammonia; Brain Diseases; Citrulline; Fatty Liver; Galactosemias; Hepatic Encephalopa

1971
Central nervous system lesions in disorders of amino-acid metabolism. A neuropathological study.
    Journal of the neurological sciences, 1972, Volume: 15, Issue:1

    Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Brain; Central Nervous System; Chi

1972
A new possibility for the demonstration of -amino-laevulinic acid in urine on the basis of Mauzerall-Granick method.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 37

    Topics: Acute Disease; Aldehydes; Animals; Benzene Derivatives; Charcoal; Humans; Levulinic Acids; Methods;

1972
Disorders of amino acid metabolism--1971.
    California medicine, 1971, Volume: 115, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Histidine; Homocystinuria; Humans; Maple Syrup Urine Disease;

1971
An improved technique for the analysis of amino acids and related compounds on thin layers of cellulose. IV. The quantitative determination of amino acids in urine.
    Journal of chromatography, 1971, Mar-03, Volume: 55, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Cellulose; Child; Chromatography, Ion Exchange;

1971