Scoring system to facilitate diagnosis of Gaucher disease
نویسندگان
چکیده
منابع مشابه
P-111: An Attempt to Facilitate the Production of Transgenic Mouse As A Model for Gene Therapy of Gaucher Disease
Background: Gaucher disease is an autosomal recessive inherited lysosomal storage disorder that affects many of the body's organs and tissues by defective function of the catabolic enzyme β-glucocerebrosidase. Gene therapy is one of the efficient ways for treatment of this disease. Due to the lack of appropriate animal models, in the field of gene therapy little progress has been done.Mate...
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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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W O YEARS AGO one of us received a call from a T pediatrician concerning a 3-year-old Jewish child with asymptomatic splenomegaly. The diagnosis of Gaucher disease was suspected, and he had heard that the diagnosis could be established enzymatically from a blood sample. We assured him that this was, indeed, quite simple to do. The next day we received a blood sample, and the following morning c...
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ژورنال
عنوان ژورنال: Internal Medicine Journal
سال: 2020
ISSN: 1444-0903,1445-5994
DOI: 10.1111/imj.14942