| Title : Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum - Curiati_2018_Case.Rep.Pediatr_2018_4375434 |
| Author(s) : Curiati MA , Kyosen SO , Pereira VG , Patricio F , Martins AM |
| Ref : Case Rep Pediatr , 2018 :4375434 , 2018 |
|
Abstract :
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease. |
| PubMedSearch : Curiati_2018_Case.Rep.Pediatr_2018_4375434 |
| PubMedID: 29527374 |
Curiati MA, Kyosen SO, Pereira VG, Patricio F, Martins AM (2018)
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Rep Pediatr
2018 :4375434
Curiati MA, Kyosen SO, Pereira VG, Patricio F, Martins AM (2018)
Case Rep Pediatr
2018 :4375434