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Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency MeSH Supplementary Concept Data 2025


MeSH Supplementary
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Unique ID
C562657
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562657
Entry Term(s)
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Sepiapterin Reductase Deficiency
Spr Deficiency
Registry Numbers
0
Heading Mapped to
*Dystonia
*Metabolism, Inborn Errors
*Psychomotor Disorders
Frequency
14
Note
mutation in sepiapterin reductase
Date of Entry
2012/11/05
Revision Date
2013/10/24
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Preferred
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