Liver function, assessed by Child-Pugh score, was significantly correlated with the blood level of each carnitine fraction measured (C0, C2, C3, C4, C6, C10, C12, C12:1, C14:1, C16, C18:1, and C18:2-acylcarnitine). Cirrhotic symptom score was significantly correlated with C0, C2, C3...
Newborn Screening with (C16 C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Highe... Carnitine palmitoyltransferase (CPT) II deficiency is a long-chain fatty acid oxidation disorder. It manifests as (1) a lethal ...
Almost all of C2- to C12-carnitine esters were significantly lower, whereas C16- and C18-carnitines with in-chain modifications were significantly higher in mothers at delivery compared with nonpregnant women. Plasma levels of free carnitine and C2-, C3-, C4-, C5-, C6-, and C16-carnitines...
Newborn Screening with (C16 C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and SpecificityJAPANNEWBORN screeningPILOT projectsCOMPARATIVE studiesTRANSFERASES...