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Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985
Clinicopathological Conference
Case 2-1984, Fabry's Disease, NEJM 310:106-114984., , 1984
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
Ann Neurol 6:232-244, Miyatake,T.,et al, 1979