| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 61 | 2020 |
| Sodium‐glucose cotransporter type 2 channel inhibitor: Breakthrough in the treatment of neutropenia in patients with glycogen storage disease type 1b? M Kaczor, M Greczan, K Kierus, E Ehmke vel Emczyńska‐Seliga, E Ciara, ... JIMD reports 63 (3), 199-206, 2022 | 14 | 2022 |
| Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis D Wesół-Kucharska, M Greczan, M Kaczor, M Pajdowska, ... Molecular Genetics and Metabolism Reports 29, 100801, 2021 | 7 | 2021 |
| NBAS deficiency due to biallelic c. 2809C> G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy P Lipiński, M Greczan, D Piekutowska-Abramczuk, E Jurkiewicz, A Bakuła, ... Metabolic Brain Disease 36 (7), 2169-2172, 2021 | 6 | 2021 |
| Diaphragmatic hernia as a prenatal feature of glycosylphosphatidylinositol biosynthesis defects and the overlap with Fryns syndrome–literature review P Kosinski, M Greczan, A Jezela-Stanek Frontiers in Genetics 12, 674722, 2021 | 6 | 2021 |
| Improvement of cardiomyopathy after ketogenic diet in a patient with Leigh syndrome caused by MTND5 mutation D Wesół-Kucharska, M Greczan, K Witulska, D Piekutowska-Abramczuk, ... | 3 | 2021 |
| Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland M Kaczor, D Wesół-Kucharska, M Greczan, K Kierus, Ł Kałużny, ... Pediatric Endocrinology Diabetes and Metabolism 28 (3), 207-212, 2022 | 2 | 2022 |
| Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin M Kaczor, S Malicki, J Folkert, E Dobosz, D Bryzek, B Chruścicka-Smaga, ... Blood Advances, bloodadvances. 2023012403, 2024 | | 2024 |
| Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease D Wesół-Kucharska, M Greczan, M Kaczor, ... Nutrients 16 (6), 812, 2024 | | 2024 |
| Nutritional Status of Patients With Glycogen Storage Diseases–Polish Experience M Hajdacka, M Jaworski, M Kobylińska, M Kaczor, D Wesół-Kucharska, ... | | 2023 |
| Nutritional Status of Patients With Glycogen Storage Diseases–Polish Experience EE vel Emczyńska-Seliga, M Hajdacka, M Jaworski, M Kobylińska, ... Preprints, 2023 | | 2023 |
| S100B Protein but Not 3-Nitrotyrosine Positively Correlates with Plasma Ammonia in Patients with Inherited Hyperammonemias: A New Promising Diagnostic Tool? AM Czarnecka, M Obara-Michlewska, D Wesół-Kucharska, M Greczan, ... Journal of Clinical Medicine 12 (6), 2411, 2023 | | 2023 |
| Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis M Greczan, D Rokicki, D Wesół-Kucharska, M Kaczor, A Rawiak, ... Frontiers in Genetics 13, 1019283, 2022 | | 2022 |
| The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype D Wesół-Kucharska, D Rokicki, M Greczan, M Kaczor, ... Pediatric Endocrinology Diabetes and Metabolism 28 (2), 141-151, 2022 | | 2022 |
| MON-PO545: L-Carnitine Oral Supplementation in Children with Intestinal Failure Receiving Long Term Parenteral Nutrition M Greczan, K Olszewska, D Rokicki, JB Książyk Clinical Nutrition 38, S260-S261, 2019 | | 2019 |
