2020
DOI: 10.1002/bmc.4735
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Quantitation of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid in human leukocytes using LC–MS/MS: method development and validation

Abstract: The biosynthesis of sialic acid (Neu5Ac) leads to the intracellular production of cytidine‐5′‐monophospho‐N‐acetylneuraminic acid (CMP‐Neu5Ac), the active sialic acid donor to nascent glycans (glycoproteins and glycolipids) in the Golgi. UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase myopathy is a rare autosomal recessive muscular disease characterized by progressive muscle weakness and atrophy. To quantify the intracellular levels of CMP‐Neu5Ac as well as N‐acetylmannosamine (ManNAc) and Neu5A… Show more

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Cited by 6 publications
(5 citation statements)
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“…After centrifugation, the blood sample was preserved in a freezer − 80°C for subsequent analysis. The serum Neu5Ac concentration in each patient was detected by liquid chromatography-tandem mass spectrometry, as previously described [19,23].…”
Section: Measurement Of Serum Neu5acmentioning
confidence: 99%
“…After centrifugation, the blood sample was preserved in a freezer − 80°C for subsequent analysis. The serum Neu5Ac concentration in each patient was detected by liquid chromatography-tandem mass spectrometry, as previously described [19,23].…”
Section: Measurement Of Serum Neu5acmentioning
confidence: 99%
“…Intracellular concentrations of ManNAc in the cerebral organoids at different time points were detected by using a triple-quadrupole liquid-chromatography tandem mass spectrometry system (LCMS-8060NX, Shimadzu, Japan) coupled with an LC-40D XS system, as previously reported ( 59 ). The column was an ACQUITY UPLC BEH Amide column (2.1 mm by 50 mm, 1.7 μm).…”
Section: Methodsmentioning
confidence: 99%
“…After centrifugation, the blood samples were stored in a freezer at −80 °C until further analysis. Serum Neu5Ac concentrations in each patient and control subject were identified using liquid chromatography–tandem mass spectrometry, according to previous research [ 22 , 23 ]. We also detected RNF213 p.R4810K variant with the primer designation of RNF213-4810F 5′-GCCCTCCATTTCTAGCACAC-3′ and RNF213-4810R 5′-AGCTGTGGCGAAAGCTTCTA-3′.…”
Section: Methodsmentioning
confidence: 99%