No abstract available
MeSH terms
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Amino Acid Substitution*
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Child, Preschool
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Consanguinity
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Conserved Sequence
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Enzyme Replacement Therapy
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Female
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Gaucher Disease / complications
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Gaucher Disease / drug therapy
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Gaucher Disease / genetics*
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Gaucher Disease / pathology
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Glucosylceramidase / genetics*
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Glucosylceramidase / therapeutic use
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Hepatomegaly / etiology
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Heterozygote
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Histiocytes / pathology
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Humans
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Iran / ethnology
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Male
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Mutation, Missense*
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Phenotype
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Point Mutation*
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Recombinant Proteins / therapeutic use
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Splenectomy
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Splenomegaly / etiology
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Splenomegaly / surgery
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Young Adult
Substances
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Recombinant Proteins
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Glucosylceramidase
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imiglucerase