𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes

✍ Scribed by Maja Di Rocco; Laura Doria-Lamba; Ubaldo Caruso


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
115 KB
Volume
50
Category
Article
ISSN
0364-5134

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Different phenotypic expression in monoz
✍ Anca, M.H. ;Gazit, E. ;Loewenthal, R. ;Ostrovsky, O. ;Frydman, M. ;Giladi, N. πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 49 KB πŸ‘ 2 views

## Abstract Monozygotic (MZ), 46‐year‐old, male twins, carrying the same Huntington disease (HD) mutation, presented with a different clinical course. In one of the twins, the disease process started at the age of 32 years with chorea, dysarthria, and a depressed mood. Over 14 years, the disease pr

Monozygotic twins with 45,X/46,XY mosaic
✍ Costa, Teresa; Lambert, Marie; Teshima, Ikuko; Ray, Peter N.; Richer, Claude-Lis πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 30 KB πŸ‘ 1 views

We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/ 46,XY mosaicism in lymphocytes but fibroblasts gro

X-linked adrenoleukodystrophy: Phenotype
✍ Ruiz, M.; Coll, M.J.; PοΏ½mpols, T.; GirοΏ½s, M. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 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