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Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
Alsubhi, Sarah; Osterman, Bradley; Chrestian, Nicolas; Dubeau, François; Buhas, Daniela; Srour, Myriam.
Afiliação
  • Alsubhi S; Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Osterman B; Division of Pediatric Neurology, Department of Pediatrics, McGill University, Montreal, QC, Canada.
  • Chrestian N; Department of Pediatric Neurology, Pediatric Neuromuscular Disorder, Centre Mère Enfant Soleil, Laval University, Quebec City, QC, Canada.
  • Dubeau F; Department of Neurology and Neurosurgery McGill University, Montreal, QC, Canada.
  • Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.
  • Srour M; Department of Human Genetics, McGill University, Montreal, QC, Canada.
Front Neurol ; 13: 913652, 2022.
Article em En | MEDLINE | ID: mdl-36324377

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2022 Tipo de documento: Article