منابع مشابه
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly useful for carrier detection since the results of biochemical analyses are often ambiguous. ...
متن کاملPrenatal diagnosis of Wolman's disease.
Amniocentesis was performed in the 15th week of a pregnancy at risk for Wolman's disease. The cultured amniotic fluid cells were found to have a severe deficiency of acid esterase activity consistent with homozygosity of the fetus. The pregnancy was terminated in the 19th week and the prenatal diagnosis confirmed by enzymic and chemical evaluation of the fetal tissues.
متن کاملGaucher Disease and Gaucher Cells
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...
متن کاملMisuse of marrow examination in the diagnosis of Gaucher disease.
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...
متن کامل[Gaucher disease--guidelines for diagnosis and management of adult patients].
Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are...
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ژورنال
عنوان ژورنال: Medical Journal Armed Forces India
سال: 2010
ISSN: 0377-1237
DOI: 10.1016/s0377-1237(10)80137-6