Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-Like Episodes (MELAS) :Clinical, Radiological, Pathol & Genetic Observ
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A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Clinicopathologic Conference, Homocystinuria due to genetic mutations of the gene encoding cystathionine B-synthase (CBS)
NEJM 378:941-948, Case 7-2018, 2018
Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Molybdenum Cofactor Deficiency
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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
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Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
Sturge-Weber Syndrome
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MRI in Methylmalonic Acidemia
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Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
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Gray Matter Heterotopias:MR Characteristics & Correlation with Develop & Neurologic Manifest
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A Clinical Study of Noonan Syndrome
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Prospective Observations of 100 High-Risk Neonates by High-Field MRI of CNS:I. Intraventricular & Extracerebral Lesions
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Fucosidosis Revisited:A Review of 77 Patients
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Thalamic Hemorrhage with Intraventricular Hemorrhage in the Full-Term Newborn
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Maternal & Fetal Sequelae of Anticoagulation During Pregnancy
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Hazards of Oral Anticoagulants During Pregnancy
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