Prenatal diagnosis of cystinosis
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis of Granular Cell Tumor
Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...
متن کاملPrenatal Diagnosis, Sampling of Chorionic Villi
Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...
متن کاملBiochemical diagnosis of cystinosis using cultured cells.
Wilcox, P., and Patrick, A. D. (1974). Archives of Disease in Childhood, 49,209. Biochemical diagnosis of cystinosis using cultured ceils. A simple method is described for the biochemical diagnosis of cystinosis using small numbers of cells cultured in medium containing L-35S-cystine. Nonprotein sulphur-labelled compounds were extracted from the cells and separated by thin-layer chromatography....
متن کاملCanadian Guidelines for Prenatal Diagnosis - techniques of prenatal diagnosis
These guidelines reflect emerging clinical and scientific advances as of the date issued and are subject to change.The information should not be construed as dictating an exclusive course of treatment or procedure to be followed. Local institutions can dictate amendments to these opinions.They should be well documented if modified at the local level. None of the contents may be reproduced in an...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 1975
ISSN: 0022-3476
DOI: 10.1016/s0022-3476(75)80820-1