Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
スポンサーリンク
概要
著者
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Pavone Lorenzo
Division Of Pediatric Neurology Department Of Pediatrics University Of Catania
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BARONE Rita
Division of Pediatric Neurology, Department of Pediatrics, University of Catania
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FIUMARA Agata
Division of Pediatric Neurology, Department of Pediatrics, University of Catania
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BIANCHINI Rio
Division of Pediatric Neurology, Pediatric Clinic, V.le A. Doria, 6, 95125 University of Catania
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JAEKEN Jaak
Centre for Metabolic Diseases, Department of Pediatrics, University of Leuven
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Fiumara Agata
Division Of Pediatric Neurology Department Of Pediatrics University Of Catania
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Jaeken Jaak
Centre For Metabolic Diseases Department Of Pediatrics University Of Leuven
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Barone Rita
Division Of Pediatric Neurology Department Of Pediatrics University Of Catania
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Bianchini Rio
Division Of Pediatric Neurology Pediatric Clinic V.le A. Doria 6 95125 University Of Catania
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Pavone Lorenzo
Institute Of Pediatrics University Of Catania
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Barone Rita
Institute Of Pediatrics University Of Catania
関連論文
- Two Novel SCN1A Missense Mutations in Generalized Epilepsy with Febrile Seizures Plus
- Startle epilepsy complicating aspartylglucosaminuria
- Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
- Epilepsy in fragile X syndrome
- A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit