Results 171 to 180 of about 40,853 (234)

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

open access: yesJ Inherit Metab Dis
Damiano C   +20 more
europepmc   +1 more source

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool. [PDF]

open access: yesFront Genet
Kušíková K   +9 more
europepmc   +1 more source

Inhibition of PFKFB3 in Macrophages Has a Dual Effect on Tumor-Regulating Lipid Metabolism. [PDF]

open access: yesInt J Mol Sci
Shmakova E   +13 more
europepmc   +1 more source

Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate. [PDF]

open access: yesEndocrinol Diabetes Metab Case Rep
Miyauchi S   +12 more
europepmc   +1 more source

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