A Middle-aged Woman with Severe Scoliosis and Encephalopathy
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Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
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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A Clinical Study of Noonan Syndrome
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Natural History of the Fetal Alcohol Syndrome:A 10-Year Follow-Up of Eleven Patients
Lancet 2:85-91, Streissguth,A.P.,et al, 1985
Clinicopathological Conference
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Child Abuse as a Cause of Post-Traumatic Hypopituitarism
NEJM 302:724-728, Miller,W.L.,et al, 1980
A 40-Year-Old Woman Presenting with Distal Leg Weakness
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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
Neurol 83:780-786, Poidvin, a.,et al, 2014
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
Neurol 78:e113-e114, Seixas,J.C.,et al, 2012
Mitochondrial Neurogastrointestinal Encephalomyopathy (MMGIE) :Clin Biochem & Genetic Features of Auto Recess Mitochond Disorder
Neurol 44:721-727, Hirano,M.,et al, 1994
Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Craniopharyngyoma in Children
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MELAS Syndrome Involving a Mother & Two Children
Arch Neurol 44:971-973, Driscoll,P.F.,et al, 1987
Neurological Manifestations in Xeroderma Pigmentosum
Ann Neurol 20:70-75, Mimaki,T.,et al, 1986
Mitochondrial Myopathies
Ann Neurol 17:521-538, DiMauro,S.,et al, 1985
Carbonic Anhydrase II Deficiency in 12 Families with Osteopetrosis with Renal Tubular Acidosis & Cerebral Calcification
NEJM 313:139-181, Sly,W.S.,et al, 1985
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
Ann Neurol 16:481-488, Pavlakis,S.G.,et al, 1984
Chronic Hydrocephalus Associated with Short Stature & Growth Hormone Deficiency
Ann Neurol 2:246, Hier,D.B.,et al, 1977