Výsledky vyhledávání - "Karolina Orchel-Szastak"

Akademický článek

Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria

Autor: Miroslaw Bik-Multanowski, Anna Madetko-Talowska, Iwona Betka, Elzbieta Swieczka, Bozena Didycz, Karolina Orchel-Szastak, Kinga Bik-Multanowska, Ewa Starostecka, Joanna Jaglowska, Renata Mozrzymas, Joanna Zolkowska, Katarzyna Chyz, Dorota Korycinska-Chaaban

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100640- (2020)

Purpose: Phenylketonuria (PKU) can be effectively treated with the use of a low-phenylalanine diet. However, some patients become overweight despite proper dietary treatment. We hypothesized that this phenomenon could be explained by the presence of

Externí odkaz: https://doaj.org/article/25381154d73342a3ad185baa29970802

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Assessment of the function and morphology of the thyroid gland in paediatric patients treated with enzyme replacement therapy due to selected storage diseases - preliminary results of our own research and a review of the literature

Autor: Aleksandra Furtak, Anna Wędrychowicz, Dorota Roztoczyńska, Dominika Januś, Karolina Orchel-Szastak, Przemko Kwinta, Jerzy B. Starzyk

Some storage diseases, caused by a deficiency of a specific enzyme, which results in the systemic accumulation of non-metabolized substances, can be treated with enzyme replacement therapy (ERT), which can protect many organs, including the endocrine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cbdc926e0207d9faede4e566d85450
https://ruj.uj.edu.pl/xmlui/handle/item/292687

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Carriership of the rs113883650/rs2287120 haplotype of the SLC7A5 (LAT1) gene increases the risk of obesity in infants with phenylketonuria

Autor: Iwona Betka, Joanna Jaglowska, Karolina Orchel-Szastak, Ewa Starostecka, Katarzyna Chyz, Dorota Korycinska-Chaaban, Anna Madetko-Talowska, Joanna Zolkowska, Bozena Didycz, Miroslaw Bik-Multanowski, Elzbieta Swieczka, Renata Mozrzymas, Kinga Bik-Multanowska

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100640-(2020)
Molecular Genetics and Metabolism Reports

Purpose Phenylketonuria (PKU) can be effectively treated with the use of a low-phenylalanine diet. However, some patients become overweight despite proper dietary treatment. We hypothesized that this phenomenon could be explained by the presence of s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e3d026769ce305b90eecc0485dc9a40
http://www.sciencedirect.com/science/article/pii/S2214426920300860

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