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Št. zadetkov: 2
Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA
Tatiana Marusic, Mojca Žerjav-Tanšek, Andreja Širca-Čampa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Grošelj
Izvirni znanstveni članek
Oznake: inborn genetic diseases;glycogen storage disease;glycogen storage disease type III;cardiomyopathy;hypertrophic diet;ketogenic;
Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan
Quratul Ain, Matija Cevc, Tatiana Marusic, Jaka Šikonja, Fouzia Sadiq, Urša Šuštar, Matej Mlinarič, Jernej Kovač, Hijab Batool, Mohammad Iqbal Khan, Katarina Trebušak Podkrajšek, Barbara Jenko, Tadej Battelino, Zlatko Fras, Urh Grošelj
Izvirni znanstveni članek
Oznake: LPL;case series;hypertriglyceridemia;lipoprotein lipase;lipoprotein lipase deficiency;pancreatitis;
Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents wi ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 2
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