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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
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Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Amaurotic Family Idiocy
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
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Peripheral Neuropathy in the Cherry-Red Spot-Myoclonus Syndrome (Sialidosis Type I)
Ann Neurol 7:450-456, Steinman,L.,et al, 1980
The Cherry-red Spot-Myoclonus Syndrome
Ann Neurol 3:234, Rapin,I.,et al, 1978
Systemic Membrane Defect in the Proximal Muscular Dystrophies
NEJM 299:841-846, Pickard,N.A.,et al, 1978
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,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
Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
Lancet 401:e2, Kovalchuk,B. & Khoramnia,R., 2023
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
A 6-Year-Old Girl with Progressive Toe Walking
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Neuroimaging Changes in Menkes Disease, Part 1
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Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Non-Alzheimers Dementia 1 Frontotemporal Dementia
Lancet 386:1672-1682, Bang, Jee.,et al, 2015
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
NEJM 370:911-920, Zhou, Q.,et al, 2014
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Red Papules on the Tongue of a Patient with Hemiparesis
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Inherited Metabolic Diseases of the Nervous System, Infantile Niemann-Pick Disease
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Inherited Metabolic Diseases of the Nervous System, Fabry Disease
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Degenerative Diseases of the Nervous System, Alzheimer Disease
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Clinical and Genetic Spectrum of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Clinicopath Conf, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
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Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Coma in a Young Anorexic Woman
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Parkinson's Disease
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Stroke in Williams Syndrome
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Clinical, Neuroimaging, and Pathologic Features of Progressive Nonfluent Aphasia
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Presynaptic Dopaminergic Deficits in Lesch-Nyhan Disease
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
Ann Neurol 39:343-351, Rahman,S.,et al, 1996
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995
Congential Deficienty of Factor VII in Subarachnoid Hemorrhage
Stroke 25:508-510, Papa,M.L.,et al, 1994
Cerebral Involvement in McLeod Syndrome
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