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    Article

    Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia

    Deficiency or diminished activity of a cobalamin dependent enzyme methylmalonyl-CoA mutase causes inborn error of metabolism called methylmalonic acidemia (MMA). In this study we elucidated the spectrum of mut...

    Chandrawati Kumari, Seema Kapoor, Bijo Varughese… in Indian Journal of Clinical Biochemistry (2017)

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    Article

    Liquid–Liquid Extraction and Solid Phase Extraction for Urinary Organic Acids: A Comparative Study from a Resource Constraint Setting

    Pre analytical process of extraction for accurate detection of organic acids is a crucial step in diagnosis of organic acidemias by GCMS analysis. This process is accomplished either by solid phase extraction ...

    Chandrawati Kumari, Bijo Varughese… in Indian Journal of Clinical Biochemistry (2016)