𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutational Analyses of Taiwanese Kindred With X-linked Adrenoleukodystrophy

✍ Scribed by Hou-Chang Chiu; Jao-Shwann Liang; Jinn-Shyan Wang; Jyh-Feng Lu

Book ID
116824988
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
350 KB
Volume
35
Category
Article
ISSN
0887-8994

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

X-linked adrenoleukodystrophy: Phenotype
X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds
✍ Ruiz, M.; Coll, M.J.; PοΏ½mpols, T.; GirοΏ½s, M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 3 views

## X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by an impairment in peroxisomal ␀-oxidation of very long straight-chain fatty acids (VLCFAs). Six clinical phenotypes have been delineated: childhood cerebral (CCALD), adolescent cerebral (AdolCALD), adult cerebral (ACAL

Prenatal diagnosis of X-linked adrenoleu
Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses
✍ 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‘ 2 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