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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Disturbances of Cerebrospinal Fluid, Including Hydrocephalus, Pseudotumor Cerebri, and Low-Pressure Syndromes, Pseudotumor Cerebri
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A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
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A Floppy Child with Failure to Thrive
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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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Prader-Willi and Angelman Syndromes
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Mitochondrial DNA and Disease
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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A Clinical Study of Noonan Syndrome
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Neurological Manifestations in Xeroderma Pigmentosum
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
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Kearns-Sayre Syndrome with Hypoparathyroidism
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