Abstract
We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.
MeSH terms
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Age Factors
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Biopsy
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Child
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Child, Preschool
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Female
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Homozygote
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Humans
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Male
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Skin / pathology
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Tay-Sachs Disease / enzymology*
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Tay-Sachs Disease / pathology
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beta-Galactosidase / metabolism
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beta-N-Acetylhexosaminidases / deficiency*
Substances
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beta-Galactosidase
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beta-N-Acetylhexosaminidases