Gaucher disease: Progress and ongoing challenges
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چکیده
منابع مشابه
Gaucher disease: Progress and ongoing challenges.
Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe Brady at the National Institutes of Health. These include the recognition of the enzymatic defect involved, the isolation and characteri...
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Management of urethral stricture disease presents constant challenge for all reconstructive urologists. Urethral stricture disease is generally defined as stenoses that are typically long, involving broad areas of varying spongiofibrosis, and result from inflammation and/or infection, rather than trauma. Although the management of urethral strictures may be complex and challenging, very often t...
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4. Özsoylu S, Allahverdi H, Laleli Y, Pirnar A. Platelet survival in childhood idiopathic thrombocytopenic purpura in remission. J Pediatr 1976;89:388-390. 5. Özsoylu Ş, Karabent A, Irken G, Tuncer M. Antiplatelet antibody in childhood idiopathic thrombocytopenic purpura. Am J Hematol 1991;36:82-85. 6. Özsoylu Ş, Ertürk G. Oral megadose methylprednisolone for acute childhood idiopathic thromboc...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2017
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2016.11.006