Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Heterogeneity of Coenzyme Q10 Deficiency
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Focusing on the Eye Signs of Alport Syndrome in a 40-Year-Old Man Who Previously Had a Kidney Transplant and Hearing Loss
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Neurologic Manifestations of von Hippel-Lindau Disease
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Metabolic Disease and Stroke: MELAS
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Mitochondrial Respiratory-Chain Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Adult-Onset MELAS
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Brief Report:Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
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Anderson-Fabry Disease
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The Peroxisome:Nervous System Role of a Previously Underrated Organelle, The 1987 Robert Wartenberg Lecture
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Neurological Manifestations of Fabry Disease in Female Carriers
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