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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Mitochondrial Respiratory-Chain Diseases
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Mitochondrial DNA and Disease
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Cockayne Syndrome: Review of 140 Cases
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Osteopetrosis, Renal Tubular Acidosis & Basal Ganglia Calcification in Three Sisters
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Kearns-Sayre Syndrome with Hypoparathyroidism
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