Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation-Reference-Cited by-同舟云学术

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation

Published:2008-02 Issue:1 Volume:18 Page:40-42
ISSN:0955-8829
Container-title:Psychiatric Genetics
language:en
Short-container-title:

Author:

Di Rosa Gabriella,Pustorino Giuseppina,Spano Maria,Campion Dominique,Calabrò Marilena,Aguennouz Mohammed,Caccamo Daniela,Legallic Solenn,Sgro Domenica Lucia,Bonsignore Maria,Tortorella Gaetano

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Biological Psychiatry,Psychiatry and Mental health,Genetics(clinical),Genetics

Reference7 articles.

1. Functional consequences of PRODH missense mutations;Bender;Am J Hum Genet,2005

2. Is type I hyperprolinemia actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance;Humbertclaude;J Child Neurol,2001

3. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene;Jacquet;J Med Genet,2003

4. Hyperprolinemia is a risk factor for schizoaffective disorder;Jacquet;Mol Psychiatry,2005

5. The metabolic and molecular bases of inherited disease. 8th ed.;Phang,2001

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