Piekutowska-Abramczuk D

References (3)

Title : Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland - Iwanicka-Pronicka_2019_Int.J.Pediatr.Otorhinolaryngol_121_143
Author(s) : Iwanicka-Pronicka K , Ciara E , Piekutowska-Abramczuk D , Halat P , Pajdowska M , Pronicki M
Ref : Int J Pediatr Otorhinolaryngol , 121 :143 , 2019
Abstract :
PubMedSearch : Iwanicka-Pronicka_2019_Int.J.Pediatr.Otorhinolaryngol_121_143
PubMedID: 30909120
Gene_locus related to this paper: human-SERAC1

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 :
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 :
PubMedSearch : Pronicka_2016_J.Transl.Med_14_174
PubMedID: 27290639
Gene_locus related to this paper: human-SERAC1