Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Genetic Diagnosis of Gaucher's Disease
Lancet 339:889-892, Mistry,P.K.,et al, 1992
A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Clinicopath Conf, Infantile Krabbe Disease
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Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Postpartum Coma and Death Due to Carbamoyl-Phosphate Synthetase I Deficiency
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Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
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Acid Maltase Deficiency
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Neuropathology of Sanfilippo Syndrome
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