https://iacs-010759inhibitor.c....om/visible-considera
We present an incident of a novel missense mutation into the GK gene leading to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes. This paper reviews glycerol kinase deficiency, describes the challenges in diagnosing pseudohypertriglyceridemia, and provides suggestions about increasing diagnostic precision. Furthermore, a potential ma
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