Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers.
Guo F, Zhou L, Zhang F, Yu B, Yang Y, Liu Z.
Guo F, et al.
Orphanet J Rare Dis. 2024 Apr 4;19(1):145. doi: 10.1186/s13023-024-03138-5.
Orphanet J Rare Dis. 2024.
PMID: 38575986
Free PMC article.
In carriers associated with organic acid metabolic diseases, the propionylcarnitine (C3), C3/acetylcarnitine (C2), and methylmalonylcarnitine (C4DC) + 3-hydroxyisovalerylcarnitine (C5OH) levels were higher than those in non-carriers (C3: 4.12 vs. 1.66 mol/L; C3/C2: …
In carriers associated with organic acid metabolic diseases, the propionylcarnitine (C3), C3/acetylcarnitine (C2), and methylmalonylcarnitin …