Advances in Bioengineering and Biomedical Science Research(ABBSR)

Clinical Biochemistry Specialist from the University of Havana, Cuba, Currently: Riojan Health Service, Piqueras 98, 26006, Logroño, La Rioja, Spain

Publications

• Research Article   
  Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in Cuba
  Author(s): Alejandro Jesús Bermejo-Valdés* and Jessica Archer Jimenez
  
  Glycosylation, the most significant modification of proteins, plays an essential role in cellular processes. Congenital disorders of glycosylation (CDG) are multisystemic diseases resulting from mutations affecting glycosylation steps. Diagnosis of CDG relies on biochemical assays, such as isoelectric focusing. Despite its significance, CDG cases remain unreported in Cuba due to the lack of implemented diagnostic methods. This study aimed to evaluate transferrin glycoforms for diagnosing congenital N-glycosylation defects. We conducted a cross-sectional descriptive study using serum samples from 17 patients stored at the National Center for Medical Genetics of Cuba for suspected CDG. Results revealed abnormal glycosylation patterns in 7 patients, suggesting congenital N-glycosylation defects. We conclude that the implementation of transferrin glycoform analysis could pioneer a prelimi.. Read More»
  

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