An Infant with Developmental Delay, Epileptic Spasms, and Acrocyanosis
Neurol 94:939-942, Madaan, P.,et al, 2020
Pyruvate Dehydrogenase Deficiency (PDCD)
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Cognitive Delay in a 7-year-old Girl
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Clinicopath Conf, Infantile Krabbe Disease
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MRI in Methylmalonic Acidemia
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Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
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Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature
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