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Fateen EM | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Fateen EM

Department of Biochemical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Postal Code: 12622

Twenty-Five Years of Biochemical Diagnosis of Gaucher Disease: The Egyptian Experience

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... Read More»

Fateen EM and Abdallah ZY

: J Mol Genet Med 2019, 13: 418


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