TY  - GEN
AU  - Verbeek,Marcel M
AU  - Willemsen,Michel A A P
AU  - Wevers,Ron A
AU  - Lagerwerf,Aart J
AU  - Abeling,Nico G G M
AU  - Blau,Nenad
AU  - Thöny,Beat
AU  - Vargiami,Euthymia
AU  - Zafeiriou,Dimitrios I
TI  - Two Greek siblings with sepiapterin reductase deficiency
SN  - 1096-7206
PY  - 2008///0814
KW  - Alcohol Oxidoreductases
KW  - cerebrospinal fluid
KW  - Biosynthetic Pathways
KW  - Child
KW  - Female
KW  - Fibroblasts
KW  - enzymology
KW  - Greece
KW  - Homovanillic Acid
KW  - Humans
KW  - Hydroxyindoleacetic Acid
KW  - Metabolism, Inborn Errors
KW  - Mutation
KW  - Neurotransmitter Agents
KW  - Pterins
KW  - Siblings
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2008.04.003
ER  -