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Showing articles 0 to 9 of 9 Filter Applied: developmental milestones,loss of (Click to remove) Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Pantothenate Kinase - Associated Neurodegeneration (PKAN) Emedicine.Medscape Sept, Hanna, P.A. & Benbadis, S.R., 2018 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 Clinicopath Conf, Neuronal Ceroid Lipofuscinosis, Late-Onset Infantile Subtype NEJM 347:672-680, Case 27-2002, 2002 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 Neurological Manifestations in Three German Children with AIDS Neuropediatrics 18:99-106, Biggemann,B.,et al, 1987 Showing articles 0 to 9 of 9