No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Central Nervous System Diseases / diagnosis
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Central Nervous System Diseases / genetics
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Decision Making
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Diagnosis, Differential
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Female
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Gaucher Disease / diagnosis*
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Gaucher Disease / etiology
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Gaucher Disease / genetics*
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Genetic Counseling
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Genotype
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Humans
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Infant
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Italy
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Mosaicism / genetics*
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Mosaicism / pathology
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Mutagenesis
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Phenotype
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Point Mutation