Niemann-Pick Disease Type C: Two Cases and an Update
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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
Adult Sphingomyelinase Deficiency:Report of 2 Patients who Initially Presented with Psychiatric Disorders
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Acute Profound Dystonia in Infants with Glutaric Acidemia
Pediatrics 83:228-234, Bergman,I.,et al, 1989