sapropterin has been researched along with Abnormalities, Autosome in 2 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (50.00) | 29.6817 |
| 2010's | 1 (50.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Ahring, K; Almeida, MF; Belanger-Quintana, A; Blau, N; Burlina, A; Cleary, M; Coskum, T; Dokoupil, K; Evans, S; Feillet, F; Giżewska, M; Gokmen Ozel, H; Kamieńska, E; Lammardo, AM; Lotz-Havla, AS; MacDonald, A; Maillot, F; Muntau, AC; Puchwein-Schwepcke, A; Robert, M; Rocha, JC; Santra, S; Skeath, R; Strączek, K; Trefz, FK; van Dam, E; van Rijn, M; van Spronsen, F; Vijay, S | 1 |
| Gabriel, H; Hoffmann, GF; Opladen, T; Storch, A; von Mering, M | 1 |
2 other study(ies) available for sapropterin and Abnormalities, Autosome
| Article | Year |
|---|---|
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
Topics: Adolescent; Adult; Autoimmune Diseases; Biopterins; Child; Child, Preschool; Chromosome Aberrations; Consanguinity; Diet; Disease Management; Europe; Female; Gastrointestinal Diseases; Humans; Infant; Male; Phenylalanine; Phenylketonurias; Pregnancy; Retrospective Studies; Turkey | 2015 |
A novel mutation (c.64_65delGGinsAACC [p.G21fsX66]) in the GTP cyclohydrolase 1 gene that causes Segawa disease.
Topics: Adult; Base Composition; Biopterins; Chromosome Aberrations; Chromosome Deletion; DNA Mutational Analysis; Dopamine; Dystonic Disorders; Exons; Female; Fibroblasts; Frameshift Mutation; Genes, Dominant; GTP Cyclohydrolase; Guanine Nucleotides; Heterozygote; Humans; Mutagenesis, Insertional; Neopterin; Sequence Analysis, DNA; Sequence Analysis, Protein; Serotonin | 2008 |