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Results 1 - 6 of 6 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: Dystonia From the National Institutes of Health (National Library of Medicine)  
    ... myoclonus-dystonia Partington syndrome rapid-onset dystonia parkinsonism sepiapterin reductase deficiency task-specific focal dystonia tyrosine hydroxylase deficiency X- ...
  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 ...
  6. 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 ...