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Milena Greczan
Milena Greczan
Medicine
Internal medicine
Gastroenterology
Mutation
Cardiomyopathy
4
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NBAS deficiency due to biallelic c.2809C > G variant presenting with recurrent acute liver failure with severe hyperammonemia, acquired microcephaly and progressive brain atrophy
2021
Metabolic Brain Disease
Patryk Lipiński
Milena Greczan
Dorota Piekutowska-Abramczuk
Elżbieta Jurkiewicz
Agnieszka Bakuła
Piotr Socha
Irena Jankowska
Dariusz Rokicki
Anna Tylki-Szymańska
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Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis
2021
Molecular genetics and metabolism reports
Dorota Wesół-Kucharska
Milena Greczan
Magdalena Kaczor
Magdalena Pajdowska
Dorota Piekutowska-Abramczuk
Elżbieta Ciara
Paulina Halat-Wolska
Paweł Kowalski
Elżbieta Jurkiewicz
Dariusz Rokicki
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Improvement of cardiomyopathy after ketogenic diet in a patient with Leigh syndrome caused by MTND5 mutation
2021
Dorota Wesół-Kucharska
Milena Greczan
Katarzyna Witulska
Dorota Piekutowska-Abramczuk
Elżbieta Ciara
Paweł Kowalski
Dariusz Rokicki
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Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.
2021
Frontiers in Genetics
Przemyslaw Kosinski
Milena Greczan
Aleksandra Jezela Stanek
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