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Glycogen-Storage Disease Type II
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AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Duchenne Muscular Dystrophy
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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Spinal Muscular Atrophy A Timely Review
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Diagnosis and New Treatments in Muscular Dystrophies
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Fucosidosis Revisited:A Review of 77 Patients
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Bone-Marrow Transplantation for Neurovisceral Storage Disorders
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Amelioration Of Neurologic Abnormalities After"Enzyme Replacement"In Adenosine Deaminase Deficiency
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The Spectrum of Fragile X Disorders
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Unmasking Cerebrotendinous Xanthomatosis, Clinical Recognition of a Treatable Cause of Progressive Ataxia
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A 10-Year-Old Boy with Progressive Tremor, Insomnia and Autonomic Dysfunction
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Pomalidomide for Epistaxis in Hereditary Hemorrhagic Telangiectasia
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A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
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Neonatal Seizures
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Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
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Thyrotoxic Periodic Paralysis
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A 6-Year-Old Girl with Progressive Toe Walking
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Amyotrophic Lateral Sclerosis
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Alzheimers Disease
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Ehlers-Danlos Syndromes
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Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
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Clinical Reasoning: A Teenager with Left Arm Weakness
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A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Making Sense of the Clinical Spectrum of Limb Girdle Muscular Dystrophies
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A 10-year-old boy with Bilateral Vision Loss
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Dentate Update: Imaging Features of Entities that Affect the Dentate Nucleus
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Neuroimaging Changes in Menkes Disease, Part 1
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MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Neurological Management of Von Hippel-Lindau Disease
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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