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Showing articles 0 to 12 of 12 Filter Applied: familial (Click to remove) Recurrent Acroparaesthesia During Febrile Infections Lancet 363:1698, Bodamer,O.A.,et al, 2004 Inborn Errors of Metabolism as a Cause of Neurological Disease in Adults: An Approach to Investigation JNNP 69: 5-12, Gray,R.G.F. et al, 2000 Niemann-Pick Disease Type C from Bench to Bedside JAMA 276:561-564, Schiffmann,R., 1996 Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases AJNR 39:1657-1661, Codjia, P.,et al, 2018 Clinicopathologic Conference, Kufs Disease (Autosomal Dominant) Parry Type Neuronal Ceroid Lypofuscinosis NEJM 364:1062-1074, Case 8-2011, 2011 Insights into the Dynamics of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Neurol 71:925-929, Van Gerpen,J.A.,et al, 2008 Autosomal Dominant Diffuse Leukoencephalopathy with Neuroaxonal Spheroids Neurol 54:463-468, van der Knaap,M.S.,et al, 2000 Genotype-Phenotype Correlation in Adult-Onset Acid Maltase Deficiency Ann Neurol 38:450-454, Wokke,J.H.J.,et al, 1995 Clinical Variability in Adult-Onset Acid Maltase Deficiency:Report of Affected Sibs and Review of Literature Medicine 74:131-135, Felice,K.J.,et al, 1995 Clinical and Biochemical Features of 10 Adult Patients with Muscle Phosphorylase Kinase Deficiency Neurol 44:461-466, Wilkinson,D.A.,et al, 1994 Phosphorylase Deficiency In Englel & Banker, Myology, McGraw-Hill Book Co, Ch 52, 1585-1601, DiMauro,S.&Bresolin,N., 1986 Acid Maltase Deficiency Engel, A. G. in Engel and Banker, Myology, McGraw-Hill Co, New York, Ch 55, p. 1629-1651, , 1986 Showing articles 0 to 12 of 12