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Mitochondrial DNA and Disease
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Extraintestinal Manifestations of Coeliac Disease
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Dopamine-Responsive Dystonia
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A Clinical Study of Noonan Syndrome
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Growth Hormone Treatment for Childhood Short Stature and Risk of Stroke in Early Adulthood
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A Floppy Child with Failure to Thrive
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Mitochondrial Respiratory-Chain Diseases
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Physical Features of Prader-Willi Syndrome in Neonates
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MELAS Syndrome Involving a Mother & Two Children
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Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Child Abuse as a Cause of Post-Traumatic Hypopituitarism
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Kearns-Sayre Syndrome with Hypoparathyroidism
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