View Only-High Resolution Mass Spectrometry and Glycosylation Disorders-Reference Material for High Resolution Mass Spectrometry

Reference Material for High Resolution Mass Spectrometry

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The document titled "High Resolution Mass Spectrometry and Glycosylation Disorders – Changing Paradigms and Testing Strategies" is a summary of a presentation by EGL Genetics that took place on April 17, 2019. The document includes two references.<br /><br />One reference is an article by R. Francisco, D. Marques‐da‐Silva, S. Brasil, C. Pascoal, V. dos Reis Ferreira, E. Morava, and J. Jaeken, titled "The challenge of CDG diagnosis." This article was published in the Molecular Genetics and Metabolism journal in January 2019. It explores the difficulties involved in diagnosing CDG (Congenital Disorders of Glycosylation) and suggests ways to overcome these challenges.<br /><br />The second reference is an article by D.J. Lefeber, E. Morava, and J. Jaeken, titled "How to find and diagnose a CDG due to defective N‐glycosylation." This article was published in the Journal of Inherited Metabolic Disease in 2011. It discusses methods to identify and diagnose CDG specifically caused by defective N-glycosylation.<br /><br />Based on these references, it can be inferred that the presentation by EGL Genetics likely focused on the use of high-resolution mass spectrometry in diagnosing glycosylation disorders, particularly CDG. The presentation probably discussed the challenges involved in diagnosing CDG and how high-resolution mass spectrometry can provide a solution. Additionally, strategies for finding and diagnosing CDG due to defective N-glycosylation might have been presented.<br /><br />However, without further information, the specifics of the presentation cannot be accurately summarized within the given word limit.

Keywords

High Resolution Mass Spectrometry

Glycosylation Disorders

Changing Paradigms

Testing Strategies

EGL Genetics

CDG Diagnosis

Congenital Disorders of Glycosylation

Challenges in CDG Diagnosis

Defective N-glycosylation

Methods for CDG Diagnosis