Associated Papers
Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.
Alsini H et al.
Molecular Genetics and Metabolism, 2026
The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY.
Tremiño L et al.
Life (basel, Switzerland), 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM2_ESM.pdf
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
Heath O et al.
Jimd Reports, 2021
Disorders affecting vitamin B6 metabolism.
Wilson MP et al.
Journal of Inherited Metabolic Disease, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Johnstone DL et al.
Brain : a Journal of Neurology, 2019
PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy.
Shiraku H et al.
Epilepsia Open, 2018
Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
Tremiño L et al.
Human Mutation, 2018
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko B et al.
Journal of Medical Genetics, 2017
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