Niemann-Pick disease type C in monozygotic twins] |
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Authors: | L Orecchia G Signorile A Pezzano R Bianco A Iavarone P Stradoni P N De Sario |
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Affiliation: | Divisione di Pediatria, Ospedale Maria Vittoria, Torino. |
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Abstract: | The Authors describe two monochorionic twins affected by Niemann-Pick disease type C with a clinical picture beginning in the neonatal age and with a progressive mental deterioration, loss of speech and spasticity started at 30 months. The importance of cultured skin fibroblasts is emphasized. The evidence of a defective intracellular cholesterol esterification is established as an intrinsic feature of Niemann-Pick disease type C. |
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