Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)
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概要
- 論文の詳細を見る
- 2004-09-01
著者
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FILOCAMO Mirella
Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini
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MAZZOTTI Raffaella
Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini
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STROPPIANO Marina
Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini
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GROSSI Serena
Laboratorio Diagnosi Pre-Postnatale Malattie Metaboliche, IRCCS G.Gaslini
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DRAVET Charlotte
Divisione Universitaria di Neuropsichiatria Infantile, Universita di Pisa, IRCCS Fondazione Stella M
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GUERRINI Renzo
Divisione Universitaria di Neuropsichiatria Infantile, Universita di Pisa, IRCCS Fondazione Stella M
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Dravet Charlotte
Divisione Universitaria Di Neuropsichiatria Infantile Universita Di Pisa Irccs Fondazione Stella Mar
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Mazzotti Raffaella
Laboratorio Diagnosi Pre-postnatale Malattie Metaboliche Irccs G.gaslini
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Guerrini Renzo
Divisione Universitaria Di Neuropsichiatria Infantile Universita Di Pisa Irccs Fondazione Stella Mar
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Guerrini Renzo
Division Of Child Neurology And Psychiatry University Of Pisa & Irccs Fondazione Stalla Maris
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Grossi Serena
Laboratorio Diagnosi Pre-postnatale Malattie Metaboliche Irccs G.gaslini
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Filocamo Mirella
Laboratary Diagnosi Pre-postnatale Malattie Metaboliche
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Filocamo Mirella
Laboratorio Diagnosi Pre-postnatale Malattie Metaboliche Irccs G.gaslini
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Stroppiano Marina
Laboratorio Diagnosi Pre-postnatale Malattie Metaboliche Irccs G.gaslini
関連論文
- Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)
- Visual Sensitivity and Epilepsy: A Proposed Terminology and Classification for Clinical and EEG Phenomenology
- Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
- Introduction