Two Greek siblings with sepiapterin reductase deficiency. [electronic resource]
Producer: 20080814Description: 403-409 p. digitalISSN:- 1096-7206
- Alcohol Oxidoreductases -- cerebrospinal fluid
- Biosynthetic Pathways
- Child
- Female
- Fibroblasts -- enzymology
- Greece
- Homovanillic Acid -- cerebrospinal fluid
- Humans
- Hydroxyindoleacetic Acid -- cerebrospinal fluid
- Metabolism, Inborn Errors -- cerebrospinal fluid
- Mutation
- Neurotransmitter Agents -- cerebrospinal fluid
- Pterins -- cerebrospinal fluid
- Siblings
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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