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

• Sarah Alsubhi,
• Bradley Osterman,
• Nicolas Chrestian,
• François Dubeau,
• Daniela Buhas,
• Daniela Buhas,
• Myriam Srour,
• Myriam Srour,
• Myriam Srour

Affiliations

Sarah Alsubhi

Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada

Bradley Osterman

Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada

Nicolas Chrestian

Department of Pediatric Neurology, Pediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, Quebec City, QC, Canada

François Dubeau

Department of Neurology and Neurosurgery McGill University, Montreal, QC, Canada

Daniela Buhas

Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada

Daniela Buhas

Department of Human Genetics, McGill University, Montreal, QC, Canada

Myriam Srour

Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada

Myriam Srour

Department of Neurology and Neurosurgery McGill University, Montreal, QC, Canada

Myriam Srour

Child Health and Human Development Program (CHHD), McGill University Health Center Research Institute, Montreal, QC, Canada