𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The prenatal diagnosis of X-linked adrenoleukodystrophy

✍ Scribed by Ann B. Moser; Hugo W. Moser


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
129 KB
Volume
19
Category
Article
ISSN
0197-3851

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of X-linked adrenoleu
✍ Esther M. Maier; Adelbert A. Roscher; Stefan Kammerer; Karl Mehnert; Ernst Conze πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 223 KB πŸ‘ 1 views

Amniocentesis was performed at 17 weeks' gestation on a 39-year-old woman at risk of being a carrier for X-linked adrenoleukodystrophy (X-ALD). Her first son had been affected with childhood cerebral X-ALD and had died at the age of nine years. DNA analysis had not been performed nor was any materia

ALDP expression in fetal cells and its a
✍ M. Ruiz; M. J. Coll; T. Pampols; M. GirΓ³s πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 115 KB πŸ‘ 1 views

X-linked adrenoleukodystrophy (X-ALD) is due to an impairment in the peroxisomal -oxidation of very long straight chain fatty acids (VLCFAs) and the gene involved encodes a 75 kD protein (ALDP). Prenatal diagnosis is usually made by measurement of VLCFAs in cultured amniotic fluid cells (CAF) and ch

First prenatal diagnosis of X-linked lym
✍ Skare, James ;Madan, Suneeta ;Glaser, Joy ;Purtilo, David ;Nitowsky, Harold ;Pul πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 270 KB πŸ‘ 1 views

## Abstract A family study was performed in order to diagnose X‐linked lymphoproliferative (XLP) disease in a fetus. The molecular genetic analysis indicated that the fetus, as well as its healthy 7‐year‐old brother, inherited XLP. Analysis of immunoglobulin subclasses from the 7‐year‐old brother s

X-linked adrenoleukodystrophy: The Austr
✍ Kirk, Edwin P.E.; Fletcher, Janice M.; Sharp, Peter; Carey, Bill; Poulos, Alfred πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 14 KB πŸ‘ 3 views

Our objective was to review the Australasian experience of X-linked adrenoleukodystrophy (ALD), to compare the spectrum of disease seen in Australasia with previously published data from elsewhere, and to assess the reliability of carrier testing. Study design was a retrospective review of records c

PRENATAL DIAGNOSIS OF ADRENOLEUKODYSTROP
✍ ATSUSHI IMAMURA; YASUYUKI SUZUKI; XIANG-QIAN SONG; TOSHIYUKI FUKAO; NOBUYUKI SHI πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 341 KB πŸ‘ 1 views

Prenatal diagnosis of adrenoleukodystrophy (ALD) was performed by means of genetic and biochemical analysis using chorionic villi and amniocytes. The mother was a carrier of an exonic point mutation in the ALD protein gene (2154 C to T) which resulted in the premature formation of a termination codo