Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Erroneous Diagnosis Corrected After 28 Years
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Fucosidosis Revisited:A Review of 77 Patients
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