A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis)
NEJM 370:1830-1841, Case 14-2014, 2014
Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010
Genetic, Clinical, and Radiographic Delineation of Hallervorden-Spatz Syndrome
NEJM 348:33-40, Hayflick,S.J.,et al, 2003
Fucosidosis Revisited:A Review of 77 Patients
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Neurologic Crises in Hereditary Tyrosinemia
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