A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry

A New Approach for Second-Tier Analysis of Methylmalonic Acid in Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry

Introduction: Inactivity or diminished activity of an enzyme Methylmalonyl-CoA mutase (a Cobalamin dependent) enzyme causes inborn error of metabolism named Methylmalonic Acidemia/Aciduria (MMA). Liquid Chromatography-tandem Mass Spectrometry (LC-MS/MS) based method for the diagnosis of MMA in...

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Bibliographic Details
Main Authors: BIJO VARUGHESE, DNYANOBA MADREWAR, SUNIL KUMAR POLIPALLI, SIDDARTH RAMJI, SEEMA KAPOOR
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2021-02-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
biomarker
expanded newborn screening
metabolic disorders
organic acidemia
vitamin b-12 deficiency
Online Access:https://www.jcdr.net/articles/PDF/14485/46980_141220_46980_CE[Ra1]_F]SK]_PF1(AKA_KM)_PFA(AKA_KM)_PN(KM).pdf

Internet

https://www.jcdr.net/articles/PDF/14485/46980_141220_46980_CE[Ra1]_F]SK]_PF1(AKA_KM)_PFA(AKA_KM)_PN(KM).pdf

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