5 Article(s)Download |
PMID | Title | Pub. Year | #Total Relationships |
1 | 30668673 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. | 2019 Mar 1 | 1 |
2 | 29689137 | Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations. | 2018 Jul | 2 |
3 | 30525118 | PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. | 2018 Dec | 1 |
4 | 28391250 | Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy. | 2017 Dec | 2 |
5 | 27912044 | Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy. | 2016 Dec 1 | 1 |