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Showing articles 0 to 13 of 13 Filter Applied: developmental milestones,loss of (Click to remove) A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy JAMA Neurol 81:83-84, Hua,L.,et al, 2024 Clinicopathologic Conference, Systemic Juvenile Idiopathic Arthritis NEJM 385:1220-1229, Case 29-2021, 2021 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 Clinicopathologic Conference, Tay-Sacks Disease (GM2, Gangliosidosis) NEJM 370:1830-1841, Case 14-2014, 2014 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, Infantile Gaucher Disease Adams & Victors Principles of Neurology, Chp 37, pg 958, Ropper, A.H.,et al, 2014 Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease Neurol 78: e126, Shah, S.,et al, 2012 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 The Diagnosis of Childhood Neurodegenerative Disorders Presenting as Dementia in Adults Neurol 41:794-798, Coker,S.B., 1991 Showing articles 0 to 13 of 13