Sturge-Weber Syndrome
www.UptoDate.com,Dec, Patterson,M.C., 2022
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Sturge-Weber Syndrome
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Phenylketonuria
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AJNR 21:1016-1020, Matsubara,S.,et al, 2000
Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
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Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
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NEJM 333:918-924, Guttmacher,A.E.,et al, 1995
Anticonvulsant Hypersensitivity Syndrome
Arch Int Med 155:2285-2290, Vittorio,C.C.&Muglia,J.J., 1995
Familial Sneddon's Syndrome:Clinical, Hematologic, and Radiographic Findings in Two Brothers
Neurol 44:399-405, Pettee,A.D.,et al, 1994
Hypomelanosis of Ito
Editorial, Lancet 339:651-6521992., , 1992
New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
BMJ 304:1647-1648, Mitchell,S.&Bradbeer,C., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Incontinentia Pigmenti:Association with Anterior Horn Cell Degeneration
Neurol 37:446-450, Larsen,R.,et al, 1987
Clinical Spectrum of Hereditary Hemorrhagic Telangiectasia (Osler-Wever-Rendu Disease)
Am J Med 82:989-997, Perry,W.H., 1987
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
Ann Neurol 18:614-617, Wolf,B.,et al, 1985
Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Nevoid Basal Cell Carcinoma Syndrome & Epilepsy
Ann Neurol 11:372-376, Murphy,M.J.,et al, 1982
Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Neurocutaneous Disease
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NEJM 390:640-651, Saadoun,D.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
Neurol 102:e209358, Barbosa,A.R.,et al, 2024
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
www.UptoDate.com, Dec, Randle,S., et al, 2023
Updates on Sturge-Weber Syndrome
Stroke 53:3769-3779, Yeom,S.E.&Comi,A.M., 2022
Clinicopathologic Conference, Vascular Ehlers-Danlos Syndrome
NEJM 385:1317-1325, Case 30-2021, 2021
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Clinical Manifestations and Diagnosis of Nocardiosis
UptoDate May, Spelman, D., 2019
Behcet Disease
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Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome
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Clinicopathologic Conference, Advanced AIDS Complicated by HSV-1 Encephalopathy. Basal-Cell Carcinoma. Kaposis Sarcoma.
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The Syndrome of Cutaneous Photosensitivity, Growth Failure, and Basal Ganglia Calcification
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Spectrum of Imaging Appearances of Intracranial Cryptococcal Infection in HIV/AIDS Patients in the Anti-Retroviral Therapy Era
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Cerebral Abnormalities in Adults with Ataxia-Telangiectasia
AJNR 35:119-123, Lin, D.D.M.,et al, 2014
Red Papules on the Tongue of a Patient with Hemiparesis
JAMA 312:741-742, Chiu, H.Y. & Lin, S.J., 2014
Inherited Metabolic Diseases of the Nervous System, Lipogranulomatosis (Farber Disease)
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A 62-Yeal-Old Man with Fluctuating Neurological Deficits and Skin Lesions
JAMA Neurol 70:120-124, Konikkara, J.,et al, 2013
An unusual cause of stroke and hypoxia
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Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome
The Neurologist 17:179-184, Comi, A.M., 2011