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Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical and Genetic Spectrum of a Treatable Disorder
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Girls with Fragile X Syndrome:Physical and Neurocognitive Status and Outcome
Pediatrics 89:395-400, Hagerman,R.J.,et al, 1992
Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992
Acute Intermittent Porphyria
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989
Marfan's Syndrome
NEJM 301:273, Barr,M., 1979
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978
AAV9-Mediated Gene Therapy for Infantile-Onset Pompes Disease
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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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Multivessel Cerebral Occlusion in Noonan Syndrome
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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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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A 6-Year-Old Girl with Progressive Toe Walking
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Alzheimers Disease
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Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
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Duchenne Muscular Dystrophy
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A 22-Year-Old Man with Progressive Bilateral Visual Loss
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Clinicopathologic Conference,Aceruloplasminemia, Hereditary
NEJM 383:1974-1983, Case 35-2020, 2020
A 58-year-old Man with Hand Tremor and Episodes of Neck Pain
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Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019
Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019
Metabolic Lipid Muscle Disorders: Biomarkers and Treatment
Ther Adv Neurol Disord 12:1-15, Angelini, C.,et al, 2019
Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
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Neurol Sci 40:2251-2263, Donzuso,G.,et al, 2019
Clinical Reasoning: A Teenager with Left Arm Weakness
Neurol 90:e907-e910, Al-Ghamdi, F.,et al, 2018
A Curable Myopathy Manifesting as Exercixe Intolerance and Respirtory Failure
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Heart Transplantation in a Patient with Myotonic Dystrophy Type 1 and End-Stage Dilated Cardiomyopathy: A Short Term Follow-up
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A 45-year-old man with Weakness and Myalgia after Orthopedic Surgery
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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
AJNR 38:1467-1474, Bond, K.M.,et al, 2017
MRI Findings of Biotin-Responsive Basal Ganglia Disease Before and After Treatment
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Hydrocephalus in Children
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Neurological Management of Von Hippel-Lindau Disease
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DARS-Associated Leukoencephalopathy can Mimic a Steroid-Responsive Neuroinflammatory Disorder
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A Case of Refractory Nocturnal Seizures
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A 28-year-old Woman with Lower Extremity Spasticity and Microcytic Anemia
Neurol 85:e11-e14, Bonda, C.,et al, 2015
Molybdenum Cofactor Deficiency
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Chronic and Slowly Progressive Weakness of the Legs and Hands
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Autism
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Sturge-Weber Syndrome
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