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Results 1 - 5 of 5 for Sepiapterin reductase deficiency
  1. ... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Sepiapterin reductase deficiency On this page: Description Genetic changes Inheritance Diagnosis ...
  2. Genetics Home Reference: Seizures From the National Institutes of Health (National Library of Medicine)  
    ... pyridoxal 5'-phosphate-dependent epilepsy pyridoxine-dependent epilepsy sepiapterin reductase deficiency sialidosis succinic semialdehyde dehydrogenase deficiency X-linked creatine ...
  3. 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 ...
  4. Genetics Home Reference: Dopa-responsive dystonia From the National Institutes of Health (National Library of Medicine)  
    ... Registry: Segawa syndrome, autosomal recessive Genetic Testing Registry: Sepiapterin reductase deficiency You might also find information on the diagnosis ...
  5. Movement Disorders (National Library of Medicine)  
    Imagine if parts of your body moved when you didn't want them to. If you have a movement disorder, you experience these kinds of impaired movement. Dyskinesia ...