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Showing articles 0 to 8 of 8 Filter Applied: developmental milestones,loss of (Click to remove) Niemann-Pick Disease Type C from Bench to Bedside JAMA 276:561-564, Schiffmann,R., 1996 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Reversible Cerebral Atrophy and Substantia Nigra Changes after Vitamin B12 Treatment in Infantile Tremor Syndrome Neurol 103:e210076, Singh,R.,et al, 2024 Pantothenate Kinase - Associated Neurodegeneration (PKAN) Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up AJNR 30:1971-1976, Uggetti,C.,et al, 2009 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 8 of 8