| 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 : New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre - Pronicka_2016_J.Transl.Med_14_174 |
| Author(s) : Pronicka E , Piekutowska-Abramczuk D , Ciara E , Trubicka J , Rokicki D , Karkucinska-Wieckowska A , Pajdowska M , Jurkiewicz E , Halat P , Kosinska J , Pollak A , Rydzanicz M , Stawinski P , Pronicki M , Krajewska-Walasek M , Ploski R |
| Ref : J Transl Med , 14 :174 , 2016 |
| Abstract : |
| PubMedSearch : Pronicka_2016_J.Transl.Med_14_174 |
| PubMedID: 27290639 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria) - Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| Author(s) : Karkucinska-Wieckowska A , Lebiedzinska M , Jurkiewicz E , Pajdowska M , Trubicka J , Szymanska-Debinska T , Suski J , Pinton P , Duszynski J , Pronicki M , Wieckowski MR , Pronicka E |
| Ref : Folia Neuropathol , 49 :56 , 2011 |
| Abstract : |
| PubMedSearch : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| PubMedID: 21455844 |