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pro vyhledávání: '"Suresh Edayankara Kadangot"'
Autor:
Sheela Nampoothiri, Eresha Jasinge, Usha Dave, Ashish Bavdekar, Jayesh Sheth, Suresh Edayankara Kadangot, Sarita Gupta, Mehul Mistri, Varun Khanna, Frenny Sheth, Parag M Tamhankar, Mamta N. Muranjan, Chitra Ankleshwaria
Publikováno v:
Journal of human genetics. 59(4)
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene. Study was performed in 33 unrelated patients with low β-glucosidase activity in leukocytes and/or fibr