Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2017.07.011
Abstract: BACKGROUND Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because… read more here.
Keywords: using c16; carnitine palmitoyltransferase; cpt deficiency; deficiency ... See more keywords
Acute Respiratory Infection Unveiling CPT II Deficiency
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DOI: 10.3390/ijms19102950
Abstract: Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three clinical phenotypes of CPT II deficiency have been described: Lethal neonatal onset, infantile severe form, and the late onset more common… read more here.
Keywords: infection unveiling; respiratory infection; acute respiratory; cpt deficiency ... See more keywords
Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency
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DOI: 10.3390/ijms20061400
Abstract: Fibroblast growth factor 21 (FGF-21) is known to be a biomarker for mitochondrial disorders. An upregulation of FGF-21 in serum and muscle of carnitine palmitoyltransferase I (CPT I) and carnitine palmitoyltransferase II (CPT II) knock-out… read more here.
Keywords: palmitoyltransferase cpt; fgf serum; carnitine palmitoyltransferase; cpt deficiency ... See more keywords