Case presentation A 17-year-old Asian male individual with a known diagnosis of PraderWilli syndrome (confirmed by multiplex ligation-dependent probe amplification at age 15 years) presented to the emergency department with acute respiratory distress, generalized edema, and decreased urinary output
Intracellular lactate/pyruvate ( a ), 2-hydroxybutyrate/2-ketobutyrate (2HB/2KB) ( b ), 3-hydroxybutyrate/acetoacetate (3HB/AcAc) ( c ), glycerol 3-phosphate/dihydroxyacetone phosphate (Gro3P/DHAP) ( d ), C16:1/C16:0 ( e ) and AMP/ATP ( f ) ratios measured in HeLa cells expressing Ec STH and mito Ec STH
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