A Rare Case of Metachromatic Leukodystrophy with Multiple Bilateral Cranial Nerve Enhancement
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Pyruvate Dehydrogenase Deficiency (PDCD)
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Neuroimaging Changes in Menkes Disease, Part 1
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Rapidly Progressive Leukoencephalopathy in Mitochondrial Complex I Deficiency
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up
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Neurodegenerative Diseases of Childhood:MR and CT Evaluation
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Alexander's Disease, A Disease of Astrocytes
Brain 108:367-385, Borrett,D.&Becker,L.E., 1985
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis
NEJM 385:1220-1229, Case 29-2021, 2021
Pantothenate Kinase - Associated Neurodegeneration (PKAN)
Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018
Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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