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Showing articles 0 to 8 of 8 Filter Applied: developmental milestones,loss of (Click to remove) 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 Neuroimaging Changes in Menkes Disease, Part 1 AJNR 38:1850-1857, Manara, R.,et al, 2017 Hydrocephalus in Children Lancet 387:788-799, Kahle, K.T.,et al, 2016 Clinicopath Conf, Infantile Krabbe Disease NEJM 362:346-356, Case 3-2010, 2010 Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up AJNR 30:1971-1976, Uggetti,C.,et al, 2009 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 Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants J Pediatr 121:710-714, Graham,S.M.,et al, 1992 Showing articles 0 to 8 of 8