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The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Published in:
Pediatric Endocrinology, Diabetes & Metabolism, 2022, v. 28, n. 2, p. 141, doi. 10.5114/pedm.2022.116116
By:
- Wesół-Kucharska, Dorota;
- Rokicki, Dariusz;
- Greczan, Milena;
- Kaczor, Magdalena;
- Czekuć-Kryśkiewicz, Edyta;
- Piekutowska-Abramczuk, Dorota;
- Halat-Wolska, Paulina;
- Ciara, Elżbieta;
- Jaworski, Maciej;
- Jezela-Stanek, Aleksandra
Publication type:
Article
Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Published in:
Nephrology Dialysis Transplantation, 2021, v. 36, n. 8, p. 1484, doi. 10.1093/ndt/gfaa178
By:
- Janiec, Agnieszka;
- Halat-Wolska, Paulina;
- Obrycki, Łukasz;
- Ciara, Elżbieta;
- Wójcik, Marek;
- Płudowski, Paweł;
- Wierzbicka, Aldona;
- Kowalska, Ewa;
- Książyk, Janusz B;
- Kułaga, Zbigniew;
- Pronicka, Ewa;
- Litwin, Mieczysław
Publication type:
Article
The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.
Published in:
2019
By:
- Jędrzejowska, Maria;
- Dębek, Emilia;
- Kowalczyk, Bartłomiej;
- Halat, Paulina;
- Kostera-Pruszczyk, Anna;
- Ciara, Elżbieta;
- Jezela-Stanek, Aleksandra;
- Rydzanicz, Małgorzata;
- Gasperowicz, Piotr;
- Gos, Monika
Publication type:
journal article
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Published in:
2016
By:
- Pronicka, Ewa;
- Piekutowska-Abramczuk, Dorota;
- Ciara, Elżbieta;
- Trubicka, Joanna;
- Rokicki, Dariusz;
- Karkucińska-Więckowska, Agnieszka;
- Pajdowska, Magdalena;
- Jurkiewicz, Elżbieta;
- Halat, Paulina;
- Kosińska, Joanna;
- Pollak, Agnieszka;
- Rydzanicz, Małgorzata;
- Stawinski, Piotr;
- Pronicki, Maciej;
- Krajewska-Walasek, Małgorzata;
- Płoski, Rafał
Publication type:
journal article
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Published in:
Nutrients, 2024, v. 16, n. 6, p. 812, doi. 10.3390/nu16060812
By:
- Wesół-Kucharska, Dorota;
- Greczan, Milena;
- Kaczor, Magdalena;
- Ehmke vel Emczyńska-Seliga, Ewa;
- Hajdacka, Małgorzata;
- Czekuć-Kryśkiewicz, Edyta;
- Piekutowska-Abramczuk, Dorota;
- Halat-Wolska, Paulina;
- Ciara, Elżbieta;
- Jaworski, Maciej;
- Jezela-Stanek, Aleksandra;
- Rokicki, Dariusz
Publication type:
Article

Found: 5

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene.

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.