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Showing articles 0 to 5 of 5 Filter Applied: developmental milestones,loss of (Click to remove) Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis NEJM 385:1220-1229, Case 29-2021, 2021 FARS2 dificiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance Mol Genet Metab 125:281-291, Almannai, M.,et al, 2018 Niemann-Pick Disease Type C from Bench to Bedside JAMA 276:561-564, Schiffmann,R., 1996 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 Clinicopath Conf Infantile Striatonigral Regeneration, with Cerebellar Degeneration, Familial, Case 30-1992, NEJM 327, 261-1992., 1992 Showing articles 0 to 5 of 5