hawkinsin has been researched along with Tyrosinemias in 2 studies
*Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3) [MeSH]
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Bodamer, OA; Item, CB; Jalan, A; Lichtarge, O; Mihalek, I; Muhl, A; Vodopiutz, J | 1 |
| Awata, H; Boneh, A; Danks, DM; Endo, F; Matsuda, I; Matsuura, T; Milovac, T; Ploechl, E; Scott, CR; Tomoeda, K | 1 |
2 other study(ies) available for hawkinsin and Tyrosinemias
| Article | Year |
|---|---|
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Amino Acids, Sulfur; Cyclohexenes; DNA; Genetic Carrier Screening; Humans; Infant; Models, Molecular; Polymerase Chain Reaction; Protein Conformation; Tyrosinemias | 2007 |
Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.
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 |