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Q33583826-C405EA17-D1A7-4DC3-8036-58FC9059DB00
Q33583826-C405EA17-D1A7-4DC3-8036-58FC9059DB00
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33583826-C405EA17-D1A7-4DC3-8036-58FC9059DB00
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.
P2860
Q33583826-C405EA17-D1A7-4DC3-8036-58FC9059DB00
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33583826-C405EA17-D1A7-4DC3-8036-58FC9059DB00
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Statement
wasDerivedFrom
bfe09debd6685d3cd0e8caf4683739a202b9a9a5
P2860
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.