A 14-Year-Old Girl with Headache, Seizures, and Confusion
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Pyogenic Brain Abscesses in a Patient with Digital Clubbing
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Clinicopathologic conference, Vitamin D deficiency
NEJM 383:2462-2470, Case 39-2020, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance
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Clinical Reasoning: Seizures in a Child With Sensorineural Deafness and Agitation
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Clinicopath Conf., Adult Cerebral Form of X-Linked Adrenoleukodystrophy
NEJM 360:171-181, Case 1-2009, 2009
Nonadherence to Antiepileptic Drugs and Increased Mortality: Findings from the RANsom Study
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Seizures on Hearing the Alarm Clock
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Injuries Due to Seizures in Persons with Epilepsy
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Triple "E" Syndrome: Bilateral Locked Posterior Fracture Dislocation of the Shoulders
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The Neurologic Complications of Scleromyxedema
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Epilepsy, Broken Bones, and Fatty Stools
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Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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Systemic Sclerosis Sine Scleroderma:An Unusual Presentation in Scleroderma Renal Crisis
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Hereditary Hemorrhagic Telangiectasia
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Seizure-Induced Thoracic Burst Fractures
Spine 19:77-79, McCullen,G.M.&Brown,C.C., 1994
Arginase Deficiency Presenting as Cerebral Palsy
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Lethal Cytomegalovirus Infection in Preterm Infants:Clinical, Radiological, and Neuropathological Findings
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Fucosidosis Revisited:A Review of 77 Patients
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Seizure as a Cause of Fracture
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Autoantibodies to Glutamic Acid Decarboxylase in Pt with Stiff-Man Syndr, Epilepsy & Type I Diabetes Mellitus
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Rett Syndrome:Natural History and Management
Pediatrics 82:1-10, Moeschler,J.B.,et al, 1988
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
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Posterior Dislocation of Shoulder and Bilateral Hip Fractures Caused by Epileptic Seizure
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Von Recklinghausen Neurofibromatosis
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Simultaneous Bilateral Posterior Fracture-Dislocation of the Shoulder
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Neurologic Manifest. of Infective Endocarditis:A Review
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Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Bilateral Posterior Fracture Dislocation of the Shoulder An Uncommon Complication of a Convulsive Seizure
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Neuro CPC of MGH
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