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NEJM 370:1830-1841, Case 14-2014, 2014
Glycogen-Storage Disease Type II
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Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype
NEJM 347:672-680, Case 27-2002, 2002
Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease
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Fucosidosis Revisited:A Review of 77 Patients
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Santavuori Disease:Diagnosis by Leukocyte Ultrastructure
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Diagnosis of Infatile Neuroaxonal Dystrophy by Skin Biopsy
Ann Neurol 7:377-379, Wisniewski,K.,et al, 1980