No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Age of Onset
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Alleles*
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Cells, Cultured
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Cerebroside-Sulfatase / genetics*
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Cerebroside-Sulfatase / metabolism
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Child
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Chimera / genetics*
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Chromosomes, Human, Pair 22 / genetics
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Female
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Fibroblasts
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Heterozygote
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Humans
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Karyotyping
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Leukocytes
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Leukodystrophy, Metachromatic / enzymology
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Leukodystrophy, Metachromatic / genetics*
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Leukodystrophy, Metachromatic / pathology
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Male
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Microsatellite Repeats / genetics
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Mutation, Missense / genetics*
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Nuclear Family
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Pedigree
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Spermatozoa / physiology*