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lipochondrodystrophy

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1 lipochondrodystrophy

Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation.

synoniemen: dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome.

Pools: maszkaronizm, mukopolisacharydoza typu I, gargoilizm, zespół Hurler, choroba maszkaronów, MPS I


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