✦ LIBER ✦

Rapid prenatal diagnosis of GM1-gangliosidosis using microchemical methods

✍ Scribed by W. J. Kleijer; E. Veer; M. F. Niermeijer

Publisher: Springer
Year: 1976
Tongue: English
Weight: 477 KB
Volume: 33
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00286856

No coin nor oath required. For personal study only.

✦ Synopsis

Prenatal diagnoses were established in 3 pregnancies at risk for GM1-gangliosidosis at 9, 10, and 12 days after amniocentesis. Beta-galactosidase activities in cultured amniotic fluid cells were determined by microchemical assays in cell homogenates and in isolated groups of 10--30 freeze-dried cells. The latter method requires only a few hundred cells growing in one or more clones and will usually allow a diagnosis within 9--12 days after amniocentesis.

📜 SIMILAR VOLUMES

Rapid prenatal diagnosis of HG-PRT defic

Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods

✍ P. Hösli; C. H. M. M. Bruyn; F. J. J. M. Oerlemans; M. Verjaal; R. E. Nobrega 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 399 KB

A previously developed simple ultramicromethod has been used for the rapid prenatal diagnosis of hypoxanthine-guanine phosphoribosyl transferase (HG-PRT) deficiency. The method is based on the incubation of small numbers of visually selected, lyophilized fibroblasts (in the present study five cells

Prenatal diagnosis of GM1-gangliosidosis

Prenatal diagnosis of GM1-gangliosidosis: Biochemical manifestations in fetal tissues

✍ T. Kudoh; K. Kikuchi; F. Nakamura; S. Yokoyama; K. Karube; S. Tsugawa; R. Minami 📂 Article 📅 1978 🏛 Springer 🌐 English ⚖ 357 KB

A prenatal diagnosis of GMl-gangliosidosis was made in a pregnancy at risk, on the basis of a deficiency offl-galactosidase activity demonstrated in cultured amniotic fluid cells. Biochemical analyses were performed in the aborted fetus. GMl-ganglioside fl-galactosidase activity was reduced to 1% of

Two years' prospective experience using

Two years' prospective experience using fluorescence in situ hybridization on uncultured amniotic fluid cells for rapid prenatal diagnosis of common chromosomal aneuploidies

✍ A. Morris; E. Boyd; S. Dhanjal; G. W. Lowther; D. A. Aitken; J. Young; A. L. Men 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 176 KB 👁 2 views

A probe was generated from the YAC clone 831B9 that was suitable for the prenatal detection of trisomy 21using fluorescence in situ hybridization (FISH). This probe was initially tested on a series of 650 unselected amniotic fluid samples prior to the karyotype being available. 630 were correctly id

Rapid Mid-Trimester Prenatal Diagnosis o

Rapid Mid-Trimester Prenatal Diagnosis of Beta-thalassaemia and other Haemoglobinopathies using a Non-Radioactive Anion Exchange HPLC Technique—An Indian Experience

✍ V. B. Rao; P. G. Natrajan; C. P. Lulla; S. B. Bandodkar 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB 👁 2 views

Anion exchange high performance liquid chromatography (AX-HPLC) has been widely used for separating and quantifying various haemoglobin fractions especially in the haemoglobinopathies. We have evaluated the reliability of this technique to measure low concentrations of adult haemoglobin (HbA) in fet