Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
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Alexander's Disease, A Disease of Astrocytes
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Hypomelanosis of Ito (incontinentia pigmenti achromians) :Macrocephaly & Gray Matter Heterotopias
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Clin. Path. Conference
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
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Cognitive Delay in a 7-year-old Girl
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Leukoencephalopathy with Swelling & A Discrepantly Mild Clinical Course in Eight Children
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Hypomelanosis of Ito
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Hunter Disease (Mucopolysaccharidosis Type II) in a Karyotypically Normal Girl
Clin genet 37:355-362, Clarke,J.T.,et al, 1990
GM1 Gangliosidosis:Clinical and Laboratory Findings in Eight Families
Hum Genet 70:347-354, Giugliani,R.,et al, 1985