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Sepiapterin
- Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. ...
- The SPR gene provides instructions for making the sepiapterin reductase enzyme. This enzyme is involved in the ... first and second steps in this process. The sepiapterin reductase enzyme converts a molecule called 6-pyruvoyl- ...
- ... pyruvoyl-tetrahydropterin synthase PTP synthase PTPS PTPS_HUMAN sepiapterin synthase A sepiapterin synthesizing enzyme 1 Tests of PTS PubMed 6- ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
- ... SPR gene, which provides instructions for making the sepiapterin reductase enzyme, is involved in the last step ... Genetic Testing Registry: Dopa-responsive dystonia due to sepiapterin reductase deficiency Genetic Testing Registry: Dystonia 5 Genetic ...
- Dystonia (National Library of Medicine)Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes ...
- Movement Disorders (National Library of Medicine)Movement disorders are neurologic conditions that cause problems with movement, such as: Increased movement that can be voluntary (intentional) or involuntary ( ...
- ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
- ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
- ... genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum ...
- ... diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct; ...