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Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Niemann-Pick Disease Type C from Bench to Bedside
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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A Progressive Neurologic Disorder with Supranuclear Vertical Gaze Paresis & Distinctive Bone Marrow Cells
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Prenatal Genetic Diagnosis in 3000 Amniocenteses
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Chronic Hexosaminidase A & B Deficiency
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Prenatal Genetic Diagnosis
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