Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Neuroimaging Features of Biotinidase Deficiency
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Congenital Cytomegalovirus Infection
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The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
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Heterogeneity of Coenzyme Q10 Deficiency
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Clinicopathologic Conference, Susacs Syndrome (retinocochleocerebral vasculopathy)
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Wernicke Encephalopathy After Bariatric Surgery: Losing More Than Just Weight
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Hearing Loss is a Common Feature of Symptomatic Children with Profound Biotinidase Deficiency
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Acute Leukoencephalopathies:Differential Diagnosis and Investigation
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Epidemic of Bilateal Optic Neuropathy in Dar es Salaam, Tanzania
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Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients
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Bilirubin Metabolism and Kernicterus
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Epidemic Neuropathy in Cuba:A Plea to End the United States Economic Embargo on a Humanitarian Basis
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Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
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Cockayne Syndrome: Review of 140 Cases
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A Clinical Study of Noonan Syndrome
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Fucosidosis Revisited:A Review of 77 Patients
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The Sequelae of Haemophilus Influenzae Meningitis in School-Age Children
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A Simple Procedure for General Screening for Functional Disability in Elderly Patients
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Unclear Speech:Recognition & Significance of Unintelligible Speech in Preschool Children
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Clinical Findings in Four Children with Biotinidase Deficiency Detected Through a Statewide Neonatal Screening Program
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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The Child Who is Slow to Talk
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Kearns-Sayre Syndrome & Hypoparathyroidism
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Neurological Manifestations of Fabry Disease in Female Carriers
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School Failure & Deafness After"Silent"Congenital Cytomegalovirus Infection
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