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Piekutowska-Abramczuk, Dorota
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1

Efficacy and Safety of Ketogenic Diet Treatment in Pediatri..:

Wesół-Kucharska, Dorota ; Greczan, Milena ; Kaczor, Magdalena...
Nutrients.  16 (2024)  6 - p. 812 , 2024
Link: https://doi.org/10.3390/..
 
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2

Clinical Presentation of Left Ventricular Noncompaction Car..:

Paszkowska, Agata ; Piekutowska-Abramczuk, Dorota ; Ciara, Elżbieta...
Genes.  13 (2022)  3 - p. 477 , 2022
Link: https://doi.org/10.3390/..
 
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3

Genetic Profile of Left Ventricular Noncompaction Cardiomyo..:

Piekutowska-Abramczuk, Dorota ; Paszkowska, Agata ; Ciara, Elżbieta...
Genes.  13 (2022)  8 - p. 1334 , 2022
Link: https://doi.org/10.3390/..
 
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4

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain.  145 (2022)  5 - p. 1624-1631 , 2022
Link: https://doi.org/10.1093/..
 
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5

Early treatment of biotin–thiamine–responsive basal ganglia..:

Wesół-Kucharska, Dorota ; Greczan, Milena ; Kaczor, Magdalena...
Molecular Genetics and Metabolism Reports.  29 (2021)  - p. 100801 , 2021
Link: https://doi.org/10.1016/..
 
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6

NBAS deficiency due to biallelic c.2809C > G variant presen..:

Lipiński, Patryk ; Greczan, Milena ; Piekutowska-Abramczuk, Dorota...
Metabolic Brain Disease.  36 (2021)  7 - p. 2169-2172 , 2021
Link: https://doi.org/10.1007/..
 
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7

The Indices of Cardiovascular Magnetic Resonance Derived At..:

Ziółkowska, Lidia ; Mazurkiewicz, Łukasz ; Petryka, Joanna...
Journal of Clinical Medicine.  10 (2021)  4 - p. 650 , 2021
Link: https://doi.org/10.3390/..
 
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8

Spectrum of Clinical Features and Genetic Profile of Left V..:

Paszkowska, Agata ; Mirecka-Rola, Alicja ; Piekutowska-Abramczuk, Dorota...
Cardiogenetics.  11 (2021)  4 - p. 191-203 , 2021
Link: https://doi.org/10.3390/..
 
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9

Acute liver failure due to DGUOK deficiency–is liver transp..:

Jankowska, Irena ; Czubkowski, Piotr ; Rokicki, Dariusz...
Clinics and Research in Hepatology and Gastroenterology.  45 (2021)  1 - p. 101408 , 2021
Link: https://doi.org/10.1016/..
 
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10

Clinical picture and treatment effects in 5 patients with M..:

Wesół-Kucharska, Dorota ; Kaczor, Magdalena ; Pajdowska, Magdalena...
Molecular Genetics and Metabolism Reports.  22 (2020)  - p. 100559 , 2020
Link: https://doi.org/10.1016/..
 
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11

The frequency of mitochondrial polymerase gamma related dis..:

Piekutowska-Abramczuk, Dorota ; Kaliszewska, Magdalena ; Sułek, Anna...
Mitochondrion.  47 (2019)  - p. 179-187 , 2019
Link: https://doi.org/10.1016/..
 
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12

Congenital cochlear deafness in mitochondrial diseases rela..:

Iwanicka-Pronicka, Katarzyna ; Ciara, Elżbieta ; Piekutowska-Abramczuk, Dorota...
International Journal of Pediatric Otorhinolaryngology.  121 (2019)  - p. 143-149 , 2019
Link: https://doi.org/10.1016/..
 
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13

Clinical and molecular characteristics of newly reported mi..:

Ciara, Elżbieta ; Rokicki, Dariusz ; Lazniewski, Michal...
Journal of Human Genetics.  63 (2018)  4 - p. 473-485 , 2018
Link: https://doi.org/10.1038/..
 
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14

3-Methylglutaconic aciduria, a frequent but underrecognized..:

Rokicki, Dariusz ; Pajdowska, Magdalena ; Trubicka, Joanna...
Clinica Chimica Acta.  471 (2017)  - p. 95-100 , 2017
Link: https://doi.org/10.1016/..
 
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15

Leigh syndrome in individuals bearing m.9185T>C MTATP6 vari..:

Piekutowska-Abramczuk, Dorota ; Rutyna, Rafał ; Czyżyk, Elżbieta...
Metabolic Brain Disease.  33 (2017)  1 - p. 191-199 , 2017
Link: https://doi.org/10.1007/..
 
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