| Title : The Liver and Lysosomal Storage Diseases: From Pathophysiology to Clinical Presentation, Diagnostics, and Treatment - Lipinski_2024_Diagnostics.(Basel)_14_ |
| Author(s) : Lipinski P , Tylki-Szymanska A |
| Ref : Diagnostics (Basel) , 14 : , 2024 |
| Abstract : |
| PubMedSearch : Lipinski_2024_Diagnostics.(Basel)_14_ |
| PubMedID: 38928715 |
| Title : Progressive macrophage accumulation in lysosomal acid lipase deficiency - Lipinski_2020_Mol.Genet.Metab.Rep_23_100594 |
| Author(s) : Lipinski P , Cielecka-Kuszyk J , Bozkiewicz-Kasperczyk A , Perkowska B , Jurkiewicz E , Tylki-Szymanska A |
| Ref : Mol Genet Metab Rep , 23 :100594 , 2020 |
| Abstract : |
| PubMedSearch : Lipinski_2020_Mol.Genet.Metab.Rep_23_100594 |
| PubMedID: 32382506 |
| Gene_locus related to this paper: human-LIPA |
| Title : Early onset lysosomal acid lipase deficiency presenting as secondary hemophagocytic lymphohistiocytosis: Two infants treated with sebelipase alfa - Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| Author(s) : Santos Silva E , Klaudel-Dreszler M , Bakula A , Oliva T , Sousa T , Fernandes PC , Tylki-Szymanska A , Kamenets E , Martins E , Socha P |
| Ref : Clin Res Hepatol Gastroenterol , 42 :e77 , 2018 |
| Abstract : |
| PubMedSearch : Santos_2018_Clin.Res.Hepatol.Gastroenterol_42_e77 |
| PubMedID: 29705274 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease - Tylki-Szymanska_2014_Pril.(Makedon.Akad.Nauk.Umet.Odd.Med.Nauki)_35_99 |
| Author(s) : Tylki-Szymanska A , Jurecka A |
| Ref : Pril (Makedon Akad Nauk Umet Odd Med Nauki) , 35 :99 , 2014 |
| Abstract : |
| PubMedSearch : Tylki-Szymanska_2014_Pril.(Makedon.Akad.Nauk.Umet.Odd.Med.Nauki)_35_99 |
| PubMedID: 24798600 |