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Showing articles 0 to 8 of 8 Filter Applied: developmental milestones,loss of (Click to remove) Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss Neurol 90:e625-e631, Set, K.K.,et al, 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 Pyruvate Dehydrogenase Deficiency (PDCD) eMedicine.medscape,com, Aug, Frye,R.E.,et al, 2018 Inherited Metabolic Diseases of the Nervous System, Tay Sachs Disease Adams & Victors Principles of Neurology, Chp 37, pg 957, Ropper, A.H.,et al, 2014 Inherited Metabolic Diseases of the Nervous System, Neuroaxonal Dystrophy Adams & Victors Principles of Neurology, Chp 37, pg 972, Ropper, A.H.,et al, 2014 Aicardi-Gouti�res Syndrome: Neuroradiologic Findings and Follow-up AJNR 30:1971-1976, Uggetti,C.,et al, 2009 Long-Term Neurologic Consequences of Nutritional Vitamin B12 Deficiency in Infants J Pediatr 121:710-714, Graham,S.M.,et al, 1992 Infantile CNS Spongy Degeneration-14 Cases:Clinical Update Neurol 40:1876-1882, Gascon,G.G.,et al, 1990 Showing articles 0 to 8 of 8