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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Neuroimaging Features of Biotinidase Deficiency
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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