Two Greek siblings with sepiapterin reductase deficiency.

Verbeek, Marcel M

Two Greek siblings with sepiapterin reductase deficiency. [electronic resource] - Molecular genetics and metabolism Aug 2008 - 403-409 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1096-7206

10.1016/j.ymgme.2008.04.003 doi


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