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| Title : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95 |
| Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB |
| Ref : Clinica Chimica Acta , 471 :95 , 2017 |
| Abstract : Rokicki_2017_Clin.Chim.Acta_471_95 |
| ESTHER : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedID: 28526534 |
| 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 : Pronicka_2016_J.Transl.Med_14_174 |
| ESTHER : Pronicka_2016_J.Transl.Med_14_174 |
| 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 : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| ESTHER : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| PubMedSearch : Karkucinska-Wieckowska_2011_Folia.Neuropathol_49_56 |
| PubMedID: 21455844 |