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- W1987352488 abstract "Type I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is encoded by the proline dehydrogenase (PRODH) gene on 22q11. The functional consequences of different PRODH mutations on proline oxidase activity have been characterized in vitro. Few patients with HPI with epilepsy and cognitive/behavioral disturbances have been described so far. We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation." @default.
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- W1987352488 date "2008-02-01" @default.
- W1987352488 modified "2023-10-13" @default.
- W1987352488 title "Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation" @default.
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- W1987352488 doi "https://doi.org/10.1097/ypg.0b013e3282f08a3d" @default.
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