thymine has been researched along with Phenylketonurias in 1 studies
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).
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (100.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Jaruzelska, J | 1 |
| Abadie, V | 1 |
| d'Aubenton-Carafa, Y | 1 |
| Brody, E | 1 |
| Munnich, A | 1 |
| Marie, J | 1 |
1 other study available for thymine and Phenylketonurias
| Article | Year |
|---|---|
In vitro splicing deficiency induced by a C to T mutation at position -3 in the intron 10 acceptor site of the phenylalanine hydroxylase gene in a patient with phenylketonuria.
Topics: Base Sequence; Codon; Cytosine; HeLa Cells; Humans; Introns; Molecular Sequence Data; Phenylalanine | 1995 |