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Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

✍ Scribed by Felix G. Riepe; Wolfgang G. Sippell

Publisher
Springer
Year
2007
Tongue
English
Weight
265 KB
Volume
8
Category
Article
ISSN
1389-9155

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Prenatal diagnosis of congenital adrenal
Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia
✍ Dumic, M.; Brkljacic, L.; Plavsic, V.; Zunec, R.; Ille, J.; Wilson, R. C.; Kuvac πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 71 KB πŸ‘ 2 views

We report on the prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase in 20 at-risk pregnancies (16 salt-wasting and 4 simple virilizing families). We have diagnosed 3 affected fetuses (2 males and 1 female), 3 healthy homozygotes (2 males and 1 female), and 14 healthy heterozy

Prenatal diagnosis of congenital adrenal
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot
✍ Phyllis W. Speiser; Perrin C. White; Jacob Dupont; Deguang Zhu; Arlene B. Mercad πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 593 KB

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. Southern