No abstract available
MeSH terms
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Cathepsin D / deficiency
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Cathepsin D / genetics*
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Female
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Humans
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Infant, Newborn
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Male
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Mutation
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Neuronal Ceroid-Lipofuscinoses / congenital
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Neuronal Ceroid-Lipofuscinoses / metabolism