520 RAPID PRENATAL DIAGNOSIS OF FABRY'S DISEASE
نویسندگان
چکیده
منابع مشابه
Prenatal 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.
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mutations in any of four known nadph-oxidase components lead to cgd. x-linked cgd (x-cgd) is caused by defects in cybb, the gene that encodes gp91-phox. autosomal recessive (ar) cgd is caused by defects in the genes for p47 phox, p22-phox or p67-phox. the aim of this study was to screen the molecular defect in the fetus of an x-cgd carrier mother and postnatal confirmation of the results. in a ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-00525