|
|||||
|
|
New CTSA mutation in early infantile galactosialidosis |
|
| Authors: | Luis Aldámiz‐Echevarría M. Luz Couce Olatz Villate Ana Fernández‐Marmiesse M. Ángeles Piñán |
| Affiliation: | 1. Unit of Metabolism, Cruces University Hospital, BioCruces Health Research Institute, GCV‐CIBER de Enfermedades Raras (CIBERER), Barakaldo, Spain;2. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Coru?a, Spain;3. Service of Hematology and Hemotherapy, Cruces University Hospital, Barakaldo, Spain |
| Abstract: | |
| Keywords: | CTSA mutation early infantile galactosialidosis lysosomal storage disease next‐generation sequencing |