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Case Reports
. 2018 Aug;60(8):761-762.
doi: 10.1111/ped.13604. Epub 2018 Jul 10.

New CTSA mutation in early infantile galactosialidosis

Luis Aldámiz-Echevarría  1 , M Luz Couce  2 , Olatz Villate  1 , Ana Fernández-Marmiesse  2 , M Ángeles Piñán  3
Affiliations
Case Reports

New CTSA mutation in early infantile galactosialidosis

Luis Aldámiz-Echevarría et al. Pediatr Int. 2018 Aug.
No abstract available

Keywords: CTSA mutation; early infantile galactosialidosis; lysosomal storage disease; next-generation sequencing.

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