A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation
JNNP 69: 5-12, Gray,R.G.F. et al, 2000
Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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A 14-Year-Old Girl with Headache, Seizures, and Confusion
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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
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Sturge-Weber Syndrome
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Sturge-Weber Syndrome
MedLink Neurology, July, Comi, A.M., 2013
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008
Overview of Phenylketonuria
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Phenylketonuria
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The Tuberous Sclerosis Complex
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Angiographic and Clinical Characteristics of Patients with Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia
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New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 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
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New Research in Tuberous Sclerosis, Probably More Common with More Adult Complications
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A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991
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)
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Neurological Manifestations in Xeroderma Pigmentosum
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Clinicopathological Conference
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Central Nervous System Infections Associated with Hereditary Hemorrhagic Telangiectasia
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Chediak-Higashi Syndrome
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Ataxia-Telangiectasia:A Multisystem Hereditary Disease with Immunodeficiency
Ann Int Med 99:367-379, Waldmann,T.A.,et al, 1983
Livedo Reticularis & Cerebrovascular Lesions (Sneddon's Syndrome) , Clin, Radiolog & Path Features in Eight Cases
Brain 106:965-979, Rebollo,M.,et al, 1983
Herpes Zoster-Associated Encephalitis:Clinicopathologic Report of 12 Cases and Review of the Literature
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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
Neurologic Complications of Lymphomatoid Granulomatosis
Neurol 31:619-620, Hogan,P.J.,et al, 1981
Biotin-Responsive Carboxylase Deficiency Associated With Subnormal Plasma & Urinary Biotin
NEJM 304:817-820, Thoene,J.,et al, 1981
Blue Rubber Bleb Nevus Syndrome with CNS Involvement & Thrombosis of a Vein of Galen Malformation
Ann Neurol 3:464, Waybright,E.A.,et al, 1978
Extreme Insulin Resistance in Ataxia Telangiectasia
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Neurologic Aspects of Hereditary Hemorrhagic Telangiectasia
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Ataxia-Telangiectasia-Clonal Growth of Translocation Lymphocytes
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Neurocutaneous Disease
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A 28-Year-Old Man with Seizures and Thalamic Lesions
Neurol 106:e218065, Santos-Rojo,A.B.,et al, 2026
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
Behcets Syndrome
NEJM 390:640-651, Saadoun,D.,et al, 2024
A 62-Year-Old Woman with Transient Vision Loss
Neurol 101:e1097-e1103, Silva,L.M.T.,et al, 2023
Hereditary Hemorrhagic Telangiectasia, Clinical Presentations, and Management
Stroke 54:e512-e515, Silveira,L.,et al, 2023
Tuberous Sclerosis Complex:Clinical Features
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Rare Cause of Hemiparesis and Ataxia in a 36-Year-Old Man
Neurol 98:251-255, Decker, J. & Singh, M., 2022
Updates on Sturge-Weber Syndrome
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