✦ LIBER ✦

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis

✍ Scribed by O. N. Elpeleg; A. Shaag; Y. Anikster; C. Jakobs

Publisher: Springer
Year: 1994
Tongue: English
Weight: 417 KB
Volume: 17
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf00712008

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Reliable prenatal diagnosis of Canavan d

Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis

✍ M. J. Bennett; K. M. Gibson; W. G. Sherwood; P. Divry; M. O. Rolland; O. N. Elpe 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 377 KB

Unreliable verification of prenatal diag

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

✍ M. O. Rolland; G. Mandon; A. Bernard; M. T. Zabot; M. Mathieu 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 70 KB

Prenatal detection of Canavan disease by

Prenatal detection of Canavan disease by measurement ofN-acetyl-l-aspartate in amniotic fluid

✍ R. I. Kelley 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 108 KB

Prenatal monitoring of ornithine transca

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis

✍ T. Matsuura; R. Hoshide; M. Fukushima; T. Sakiyama; M. Owada; I. Matsuda 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 1016 KB

Prenatal diagnosis of bilirubin-UDP-gluc

Prenatal diagnosis of bilirubin-UDP-glucuronosyltransferase deficiency in rats by genomic DNA analysis

✍ Tian-Jun Huang; Jayanta Roy Chowdhury; Pulak Lahiri; Purna C. Yerneni; Vasudeva 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 799 KB

Hepatic bilirubin excretion requires UDP-glucuronosyltransferase-mediated glucuronidation. Patients with type I Crigler-Najjar syndrome and mutant rats (Gunn strain) inherit deficiency of UDP-glucuronyltransferase activity toward bilirubin as an autosomal recessive trait and, as a result, exhibit ma

First trimester prenatal diagnosis of 21

First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination

✍ E. Mornet; J. Boué; M. Raux-Demay; P. Couillin; J. F. Oury; Y. Dumez; J. Dausset 📂 Article 📅 1986 🏛 Springer 🌐 English ⚖ 961 KB

The close genetic linkage between the gene for congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency and HLA genes allowed us to use the polymorphism of this system as a marker of the disease. HLA genotyping can be performed by using restriction enzyme fragments hybridized with spe