Condition: Proline dehydrogenase deficiency


rs137852934 in PRODH gene and Proline dehydrogenase deficiency PMID 17135275 2007 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

PMID 12217952 2002 PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

PMID 15662599 2005 Functional consequences of PRODH missense mutations.