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- Title
A case of ASAH1‐related pure SMA evolving into adult‐onset Farber disease.
- Authors
Puma, Angela; Ezaru, Andra; Cavalli, Michele; Villa, Luisa; Torre, Federico; Biancalana, Valérie; Levade, Thierry; Grecu, Nicolae; Sacconi, Sabrina
- Abstract
A case of ASAH1-related pure SMA evolving into adult-onset Farber disease Even if no previous case reports exist of such lung involvement in patients with Farber disease, we imagine that this mechanism may underlie the pneumopathy presented by our patient, further supporting a concomitant FD-like phenotype. GLO:8DU/01aug21:cge13974-toc-0001.jpg PHOTO (COLOR): . gl DATA AVAILABILITY STATEMENT The data that support the findings of this study are available from the corresponding author upon reasonable request.
- Subjects
VITAL capacity (Respiration); SPINAL muscular atrophy
- Publication
Clinical Genetics, 2021, Vol 100, Issue 2, p234
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13974