Article
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2005
Palmeri S, Tarugi P, Sicurelli F, Buccoliero R, Malandrini A, De Santi M M, Marcianò G, Battisti C, Dotti M T, Calandra S, Federico A
Abstract excerpt
Progressive lung infiltration is a major cause of death in Niemann-Pick disease type A and B (NPA, NPB) and in the recently defined type C2. In type C1 (NPC1), the main manifestations are neurological. We report a patient with a classic, neurological, late infantile form of NPC1 disease, carrying the mutation P474L and the variant I642M in the NPC1 gene, who suffered recurrent respiratory manifestations....
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