Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with unusual paroxysmal episodes lacking EEG corre...

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Detalles Bibliográficos
Autores principales: Alsubhi, Sarah, Osterman, Bradley, Chrestian, Nicolas, Dubeau, François, Buhas, Daniela, Srour, Myriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618642/
https://www.ncbi.nlm.nih.gov/pubmed/36324377
http://dx.doi.org/10.3389/fneur.2022.913652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618642/
https://www.ncbi.nlm.nih.gov/pubmed/36324377
http://dx.doi.org/10.3389/fneur.2022.913652

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