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Molecular and Genetic Medicine

ISSN: 1747-0862

Open Access

Fateen EM

Department of Biochemical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt

Publications
  • Research Article   
    Twenty-Five Years of Biochemical Diagnosis of Gaucher Disease: The Egyptian Experience
    Author(s): Fateen EM* and Abdallah ZY*

    Background: Gaucher disease is a rare multi-systemic metabolic disorder resulting from the deficiency in β-glucocerebrosidase enzyme, with consequent accumulation of glucocerebroside. Less than 15% of mean normal activity β-glucocerebrosidase in leukocytes is the gold standard for the diagnosis of Gaucher disease, which is supplemented by a massive elevation in chitotriosidase enzyme activity. We report here our experience in the biochemical diagnosis of Gaucher disease by showing the variability and the heterogeneity of the activity of enzymes over 25 years from 1993-2017, through referring 5128 clinically suspected Gaucher disease cases to our Biochemical Genetics Department, National Research Centre, as the main reference lab in Egypt for the diagnosis of Inherited Metabolic Disorders. Methods: β-g.. Read More»

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