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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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A Clinical Study of Noonan Syndrome
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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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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Extraintestinal Manifestations of Coeliac Disease
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Dopamine-Responsive Dystonia
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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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MELAS Syndrome Involving a Mother & Two Children
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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