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Showing articles 0 to 8 of 8 Filter Applied: developmental retardation (Click to remove) A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever Neurol 102:e209358, Barbosa,A.R.,et al, 2024 Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS) NEJM 378:941-948, Case 7-2018, 2018 Clinical and Neuroimaging Features in Gorlin-Goltz Syndrome Neurol 88:e52-e54, da paz Oliveira, G.,et al, 2017 Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency NEJM 375:1879-1890, Case 34-2016, 2016 Niemann-Pick Disease Type C:Diagnosis and Outcome in Children, with Particular Reference to Liver disease J Pediatr 123:242-247, Kelly,D.A.,et al, 1993 Fucosidosis Revisited:A Review of 77 Patients Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991 Cockayne Syndrome:Unusual Neuropathological Findings & Review of the Literature Ann Neurol 6:340-348, 1979, Soffer,D.,et al, 1979 Neurological Complications of Infantile Osteopetrosis Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977 Showing articles 0 to 8 of 8