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hawkinsin and Amino Acid Metabolism Disorders, Inborn

hawkinsin has been researched along with Amino Acid Metabolism Disorders, Inborn in 7 studies

Research

Studies (7)

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

Authors

AuthorsStudies
Halpern, B; Hick, LA; Hocart, CH; Wong, CO1
Bohane, T; Halpern, B; Hammond, JW; Hocart, C; Howard, N; Wilcken, B1
Endo, F1
Engelke, U; Lehnert, W; Stögmann, W; van den Berg, GB; Wevers, RA1
Awata, H; Boneh, A; Danks, DM; Endo, F; Matsuda, I; Matsuura, T; Milovac, T; Ploechl, E; Scott, CR; Tomoeda, K1
Danks, DM; Matasovic, A; Niederwieser, A; Tippett, P1
Borden, M; Fleisher, L; Holm, J; Leslie, J; Lewis, D; Nadler, H; Nyhan, WL; Scott, CR; Sweetman, L1

Reviews

1 review(s) available for hawkinsin and Amino Acid Metabolism Disorders, Inborn

ArticleYear
[Hawkinsinuria].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Biomarkers; Cyclohexenes; Diagnosis, Differential; Humans; Infant, Newborn; Prognosis; Tyrosine

1998

Other Studies

6 other study(ies) available for hawkinsin and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase.
    Journal of chromatography, 1983, Jul-08, Volume: 275, Issue:2

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Australia; Cyclohexenes; Gas Chromatography-Mass Spectrometry; Humans; Infant; Pyrrolidinones; Pyrrolidonecarboxylic Acid; Quinones

1983
Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy.
    The New England journal of medicine, 1981, Oct-08, Volume: 305, Issue:15

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Carboxylic Acids; Cyclohexanecarboxylic Acids; Cyclohexenes; Genes, Dominant; Humans; Infant; Male; Pedigree; Tyrosine

1981
Long-term follow up of a new case of hawkinsinuria.
    European journal of pediatrics, 1999, Volume: 158, Issue:7

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Acidosis, Renal Tubular; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cyclohexenes; Diagnosis, Differential; Follow-Up Studies; Fructose Intolerance; Growth Disorders; Humans; Infant; Liver Diseases; Male; Tyrosine

1999
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
    Molecular genetics and metabolism, 2000, Volume: 71, Issue:3

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Base Sequence; Cyclohexenes; DNA; DNA Mutational Analysis; Family Health; Female; Humans; Infant; Male; Mutation; Mutation, Missense; Pedigree; Tyrosinemias

2000
A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother.
    Clinica chimica acta; international journal of clinical chemistry, 1977, May-02, Volume: 76, Issue:3

    Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Chromatography, Gas; Cyclohexenes; Female; Heterozygote; Humans; Infant; Mass Spectrometry; Oxygenases; Spectrophotometry, Infrared; Tyrosine

1977
Hawkinsinuria in two families.
    American journal of medical genetics, 1992, Sep-01, Volume: 44, Issue:1

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cyclohexanecarboxylic Acids; Cyclohexenes; Electrophoresis; Failure to Thrive; Female; Genes, Dominant; Humans; Infant; Male; Pedigree; Phenylpyruvic Acids; Pyrrolidonecarboxylic Acid; Tyrosine

1992