Mitochondrial DNA and Disease
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
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Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Cockayne Syndrome: Review of 140 Cases
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A Clinical Study of Noonan Syndrome
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Craniopharyngyoma in Children
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Kearns-Sayre Syndrome with Hypoparathyroidism
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Kearns-Sayre Syndrome & Hypoparathyroidism
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A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
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Germinoma of third Ventricle (Case Record of MGH)
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Mucopolysaccaridosis IV (Morquio Syndrome) , in Heritable Disorders of Connective Tissue
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A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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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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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Short Stature, Imperforate Anus, and Polydactyly
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Extraintestinal Manifestations of Coeliac Disease
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A Prematurely Aging Patient Presenting with Severe Leukoaraiosis and Stroke
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Clinicopath Conf., MELAS Syndrome
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Mitochondrial Respiratory-Chain Diseases
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Craniofacial and Cutaneous Findings Expand the Phenotype of Hereditary Neuralgic Amyotrophy
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Age at Onset of Puberty Following High-Dose Central Nervous System Radiation Therapy
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Accelerated Aging of the Brain in Werner's 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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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Precocious Puberty after Hypothalamic & Pituitary Irradiation in Young Children
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Child Abuse as a Cause of Post-Traumatic Hypopituitarism
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Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
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Familial Hypopituitarism with Large Sella Turcica
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Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
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Osteogenesis Imperfecta, in Heritable Disorders of Connective Tissue
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