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Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
Mignarri A, Magni A, Del Puppo M, Gallus GN, Björkhem I, Federico A, Dotti MT. Mignarri A, et al. Among authors: magni a. J Inherit Metab Dis. 2016 Jan;39(1):75-83. doi: 10.1007/s10545-015-9873-1. Epub 2015 Jul 8. J Inherit Metab Dis. 2016. PMID: 26153518
Treatment of SPG5 with cholesterol-lowering drugs.
Mignarri A, Malandrini A, Del Puppo M, Magni A, Monti L, Ginanneschi F, Tessa A, Santorelli FM, Federico A, Dotti MT. Mignarri A, et al. Among authors: magni a. J Neurol. 2015 Dec;262(12):2783-5. doi: 10.1007/s00415-015-7971-5. Epub 2015 Nov 14. J Neurol. 2015. PMID: 26566916 Free article. No abstract available.
Hydrocephalus, bronchiectasis, and ciliary aplasia.
De Santi MM, Magni A, Valletta EA, Gardi C, Lungarella G. De Santi MM, et al. Among authors: magni a. Arch Dis Child. 1990 May;65(5):543-4. doi: 10.1136/adc.65.5.543. Arch Dis Child. 1990. PMID: 2357097 Free PMC article.
102 results