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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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Pyruvate Dehydrogenase Deficiency (PDCD)
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Adult Phosphorylase b Kinase Deficiency
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Cytochrome c Oxidase Deficiency in Leigh Syndrome
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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Spinocerebellar Degeneration:Hexosaminidase A & B Deficiency in Two Adult Sisters
Neurol 29:380-384, Oonk,J.G.W.,et al, 1979
Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
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The Adult Form of Acid Maltase (a-1, 4-Glucosidase) Deficiency
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