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Child Neurology: Progressive Cerebellar Atrophy and Retinal Dystrophy: Clues to an Ultrarare ACO2-Related Neurometabolic Diagnosis.
Lail, Noor; Pandey, Ashutosh K; Venkatesh, Sundararajan; Noland, Roberto D; Swanson, Gabriel; Pain, Debkumar; Branson, Helen M; Suzuki, Carolyn K; Yoon, Grace.
Afiliación
  • Lail N; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Pandey AK; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Venkatesh S; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Noland RD; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Swanson G; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Pain D; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Branson HM; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Suzuki CK; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
  • Yoon G; From the Division of Clinical and Metabolic Genetics (N.L., G.Y.), Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pharmacology, Physiology and Neuroscience (A.K.P., D.P.), and Department of Microbiology, Biochemistry and Molecular Gen
Neurology ; 101(15): e1567-e1571, 2023 10 10.
Article en En | MEDLINE | ID: mdl-37460232
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Retinianas / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Retinianas / Microcefalia / Malformaciones del Sistema Nervioso Tipo de estudio: Diagnostic_studies Límite: Child / Child, preschool / Female / Humans Idioma: En Revista: Neurology Año: 2023 Tipo del documento: Article Pais de publicación: Estados Unidos