Auflistung Nach Schlagwort "inborn error of metabolism"

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Association between TLR2/TLR4 gene polymorphisms and COPD phenotype in a Greek cohort [Assoziation zwischen TLR2-/TLR4-Gen-Polymorphismen und COPD-Phänotyp]

Apostolou A., Kerenidi T., Michopoulos A., Gourgoulianis K.I., Noutsias M., Germenis A.E., Speletas M. (2017)

Background: Considering that the innate immune system plays a pivotal role in the pathogenesis of chronic obstructive pulmonary disease (COPD), we hypothesized that functional single-nucleotide polymorphisms (SNPs) of ...
Exercise in glucose-6-phosphate dehydrogenase deficiency: Harmful or harmless? A narrative review

Georgakouli K., Fatouros I.G., Draganidis D., Papanikolaou K., Tsimeas P., Deli C.K., Jamurtas A.Z. (2019)

Objectives. Glucose-6-phosphate dehydrogenase (G6PD) deficiency, theoretically, renders red blood cells (RBC) susceptible to oxidative stress. G6PD deficiency has also been found in other types of cells than RBC, such as ...
Functional characterization of the hGRαT556I causing Chrousos syndrome

Nicolaides N.C., Skyrla E., Vlachakis D., Psarra A.-M.G., Moutsatsou P., Sertedaki A., Kossida S., Charmandari E. (2016)

Background: Chrousos syndrome is a rare pathologic condition characterized by generalized, partial resistance of target tissues to glucocorticoids and caused by inactivating mutations of the human glucocorticoid receptor ...