A 60-Year-Old Man with Weakness and Gait Dysfunction
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Long-Term Effects of Antidarsagene Autotemcel for Metachromatic Leukodystrophy
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A 65-Year-Old Woman with Isolated Macroglossia as the Initial Presentation of a Rare Disease
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Expanding Clinical Spectrum an Anti-GQ1b Antibody Syndrome, A Review
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Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
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A 23-Year-Old Woman Presenting with Cognitive Impairment and Gait Disturbance
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Hematopoietic Stem - and Progenitor-Cell Gene Therapy for Hurler Syndrome
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Pes Cavus and Neuropathy
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Progressive cognitive decline, cerebellar ataxia, recurrent myoclonus, and epilepsy
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Intrathecal 2-hydroxypropyl-�-cyclodextrin Decreases Neurological Disease Progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
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Diagnosis and Misdiagnosis of Adult Neuronal Ceroid Lipofuscinosis
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Small Fiber Neuropathy in Fabry Disease:A Review of Pathophysiology and Treatment
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Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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Inherited Metabolic Diseases of the Nervous System, Metachromatic Leukodystrophy
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Inherited Metabolic Diseases of the Nervous System, Neuronal Ceroid Lipofuscinosis (Batten Disease)
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinical Reasoning: A Woman with Rapidly Progressive Apraxia
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"Im fine; Im just waiting for my disease" The New and Growing Class of Presymptomatic Patients
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Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis
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Enzyme Replacement Therapy With Agalsidase Alfa in Patients With Fabrys Disease: An Analysis of Registry Data
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A 23-Year-Old Man With Seizures and Visual Deficit
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Recurrent Acroparaesthesia During Febrile Infections
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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MR Brain Imaging of Fucosidosis Type I
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Enzyme Replacement Therapy in Fabry Disease
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Niemann-Pick Disease Type C: Two Cases and an Update
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A New Metabolite Contributing to N-Acetyl Signal in 1H MRS of the Brain in Salla Disease
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Mucolipidosis Type IV; Characteristic MRI Findings
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Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
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Niemann-Pick Disease Type C from Bench to Bedside
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Psychosis as the Initial Manifestation of Adult-Onset Niemann-Pick Disease Type C
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Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Gangliosides and Neurological Diseases, Their Use in Humans Should be Suspended
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Evaluation of Cerebral Biopsies for the Diagnosis of Dementia
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Genetic Diagnosis of Gaucher's Disease
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NEurologic Complications of Nonneuronopathic Gaucher's Disease
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Late Onset Globoid Cell Leukodystrophy
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Fucosidosis Revisited:A Review of 77 Patients
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Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews
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Anderson-Fabry Disease
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Lower Motor Neuron Disease in a Patient with Autoantibodies Against Gangliosides GM1 and GD1b:Improvement with Immunotherapy
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Neuroaxonal Dystrophy Due to Lysosomal a-N-Acetylgalactosaminidase Deficiency
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