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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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