A 54-Year-Old Woman with Progressive Headache and Neurologic Decline
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Clinicopathologic Conference, Homocystinuria caused by Cystathionine B-Synthase Deficiency
NEJM 375:1879-1890, Case 34-2016, 2016
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Clinicopath Conf, Infantile Krabbe Disease
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Outcome of Neonatal Screening for Medium-Chain acyl-CoA Dehydrogenase Deficiency in Australia: A Cohort Study
Lancet 369:37-42,5, Wilcken,B.,et al, 2007
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
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Glycogen-Storage Disease Type II
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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